SlideShare une entreprise Scribd logo
1  sur  20
Télécharger pour lire hors ligne
Slide 1                                                                         © 2003 By Default!




 HARLEQUIN ICHTHYOSIS
                                                              a case report


                                                              Dr. Shantanu Gomase
                                                                   2nd year DNB
                                                               Dept. Of Pediatrics
                                                            J.L.N.H. Bhilai Steel Plant
 A Free sample background from www.awesomebackgrounds.com
Slide 2                                                           © 2003 By Default!


                              Clinical details


                                               Term
                                               Male
                                               2 kg
                                               Normal delivery




 A Free sample background from www.awesomebackgrounds.com
Slide 3                                                        © 2003 By Default!




                         Head :Absence of hair
                               Hyperkeratotic scale

                         Eyes: Severe ectropion is present.
                                Conjuctival congestion

                         Pinna : Small and rudimentary.

                         Nose : Flattened

                         Lips: Severe traction on the lips


 A Free sample background from www.awesomebackgrounds.com
Slide 4                                                     © 2003 By Default!




    Skin:
                     Severely thickened skin with large,
                     shiny plates of hyperkeratotic scale.

                     Deep erythematous fissures separate
                     the scales.




     A Free sample background from www.awesomebackgrounds.com
Slide 5                                                     © 2003 By Default!




 A Free sample background from www.awesomebackgrounds.com
Slide 6                                                     © 2003 By Default!


      HARLEQUIN ICHTHYOSIS

The term harlequin derives from the newborn's facial
  expression and the triangular and diamond-shaped
  pattern of hyperkeratosis like that of a dress of
  harlequin clown.

SYNONYMS : Ichthyosis congenita, keratosis
           diffusa fetalis, harlequin fetus .




  A Free sample background from www.awesomebackgrounds.com
Slide 7                                                        © 2003 By Default!




    Internationally more than 100 cases have been
     reported.

    Race: No racial predilection is known.

    Sex: No increased risk based on sex is known




    A Free sample background from www.awesomebackgrounds.com
Slide 8                                                     © 2003 By Default!


                                           GENETICS

   Mutations in the ABCA12 gene on chromosome no
    2 cause harlequin ichthyosis.

   Autosomal recessive inheritance.

   This disorder occurs in consanguineous
    relationships and multiple siblings within a family
    can be affected.




     A Free sample background from www.awesomebackgrounds.com
Slide 9                                                     © 2003 By Default!


              CLINICAL FEATURES

SKIN
Severely thickened skin with
large and shiny plates of
hyperkeratotic scale is present
at birth.
Deep erythematous fissures
separate the scales.

Ears
Pinna may be small and
rudimentary or absent.


  A Free sample background from www.awesomebackgrounds.com
Slide 10                                                     © 2003 By Default!




                EYES

Severe ectropion is present.
The free edges of the upper
and lower eyelids are everted,
leaving the conjunctivae at
risk for trauma.




   A Free sample background from www.awesomebackgrounds.com
Slide 11                                                     © 2003 By Default!




LIPS: Severe traction
  on the lips causes
  eclabium and a fixed,
  open mouth.

NOSE: Nasal
 hypoplasia and
 eroded nasal alae
 may occur.



   A Free sample background from www.awesomebackgrounds.com
Slide 12                                                     © 2003 By Default!



                           PATHOGENESIS
      All patients with harlequin ichthyosis have absent or
       defective lamellar granules and no intercellular lipid
       lamellae.

      These granules are responsible for secreting lipids
       that maintain the skin barrier at the interface between
       the granular cell layer and the cornified layer.

      The lipid abnormality is believed to allow excessive
       transepidermal water loss; lack of released
       hydrolases prevents desquamation, resulting in a
       severe retention hyperkeratosis


  A Free sample background from www.awesomebackgrounds.com
Slide 13                                                            © 2003 By Default!

                                   TREATMENT
      Ensure airway, breathing, and circulation after
       delivery.

      Place infants in a humidified incubator.

      Monitor temperature, respiratory rate, heart rate, and
       oxygen saturation.

      Maintain a sterile environment to avoid               infection , IV
       Antibiotics




  A Free sample background from www.awesomebackgrounds.com
Slide 14                                                     © 2003 By Default!




Intravenous access:
      Peripheral access is difficult.
     Umbilical cannulation may be necessary.
Eye care:
      Ophthalmic lubricants to protect the conjunctivae.
Skin care:
     Bathe infants twice daily.
     Use frequent applications of wet sodium
      chloride compresses followed by bland lubricants to
      soften hard skin and to      facilitate desquamation



  A Free sample background from www.awesomebackgrounds.com
Slide 15                                                     © 2003 By Default!




  Fluid and electrolyte:

      Intravenous fluids are almost always required

      Consider excess cutaneous water losses in
       daily fluid requirement calculations.

      Monitor serum electrolyte levels. A risk of
       hypernatremic dehydration exists.



  A Free sample background from www.awesomebackgrounds.com
Slide 16                                                     © 2003 By Default!




 Retinoids

  These agents decrease the cohesiveness of abnormal
  hyperproliferative keratinocytes. They modulate keratinocyte
  differentiation.


 Isotretinoin

  0.5 mg/kg/d PO



   A Free sample background from www.awesomebackgrounds.com
Slide 17                                                     © 2003 By Default!


                             COMPLICATIONS

 Gram-positive and gram-negative sepsis.

    Relapses of severe ichthyosis with eclabium and ectropion
     occur.

    Contractures and painful fissuring of the hands and the feet
     may occur without adequate topical or systemic therapy.




      A Free sample background from www.awesomebackgrounds.com
Slide 18                                                     © 2003 By Default!


                                  PROGNOSIS

     Fulminant sepsis remains the most common cause of
      death in these infants.

     Life expectancy is unknown: A report of survival to 9
      years of age has been published.

     Mortality/Morbidity: The mortality rate is high. With
      neonatal intensive care and the advent of retinoid
      therapy, some babies have survived they are still at
      risk of succumbing to systemic infection, which is the
      most common cause of death.



  A Free sample background from www.awesomebackgrounds.com
Slide 19                                                       © 2003 By Default!



             PRENATAL DIAGNOSIS

   Amniotic fluid samples obtained as early as 17 weeks’
    gestation have demonstrated hyperkeratosis and abnormal
    lipid droplets within the cornified cells.

   Fetal skin biopsy can detect harlequin ichthyosis as early
    as 20 weeks’ gestation

   Antenatal USG can be used to identify harlequin ichthyosis
    but not until late in the second trimester when enough
    keratin buildup is present to be sonographically detectable.



    A Free sample background from www.awesomebackgrounds.com
Slide 20                                                     © 2003 By Default!




                 THANK YOU



  A Free sample background from www.awesomebackgrounds.com

Contenu connexe

Tendances (20)

Filaggrin mutation associated disorders
Filaggrin mutation associated disordersFilaggrin mutation associated disorders
Filaggrin mutation associated disorders
 
Cutaneous Vasculature and Thermoregulation
Cutaneous Vasculature and ThermoregulationCutaneous Vasculature and Thermoregulation
Cutaneous Vasculature and Thermoregulation
 
Palmoplantar Keratodermas
Palmoplantar KeratodermasPalmoplantar Keratodermas
Palmoplantar Keratodermas
 
Congenital adrenal hyperplasia
Congenital adrenal hyperplasiaCongenital adrenal hyperplasia
Congenital adrenal hyperplasia
 
Sickle cell disease sandip
Sickle cell disease sandipSickle cell disease sandip
Sickle cell disease sandip
 
Ichthyosis
IchthyosisIchthyosis
Ichthyosis
 
Neonatal dermatoses
Neonatal dermatosesNeonatal dermatoses
Neonatal dermatoses
 
Icthyosis
IcthyosisIcthyosis
Icthyosis
 
G6PD deficiency
G6PD deficiencyG6PD deficiency
G6PD deficiency
 
Incontinentia pigmenti
Incontinentia pigmentiIncontinentia pigmenti
Incontinentia pigmenti
 
Idm full
Idm fullIdm full
Idm full
 
Neonatal Jaundice
Neonatal JaundiceNeonatal Jaundice
Neonatal Jaundice
 
Beckwith wiedemann syndrome for orthodontist by almuzian
Beckwith wiedemann syndrome for orthodontist by almuzianBeckwith wiedemann syndrome for orthodontist by almuzian
Beckwith wiedemann syndrome for orthodontist by almuzian
 
Dermatology 5th year, 4th lecture (Dr. Darseem)
Dermatology 5th year, 4th lecture (Dr. Darseem)Dermatology 5th year, 4th lecture (Dr. Darseem)
Dermatology 5th year, 4th lecture (Dr. Darseem)
 
Cutaneous amyloidosis
Cutaneous amyloidosisCutaneous amyloidosis
Cutaneous amyloidosis
 
Disorders of hypoigmentation cont.
Disorders of hypoigmentation cont.Disorders of hypoigmentation cont.
Disorders of hypoigmentation cont.
 
Epidermolysis bullosa
Epidermolysis bullosaEpidermolysis bullosa
Epidermolysis bullosa
 
Edwards' syndrome
Edwards' syndromeEdwards' syndrome
Edwards' syndrome
 
Dermatology Lecture Psoriasis ACNE AD
Dermatology Lecture Psoriasis ACNE ADDermatology Lecture Psoriasis ACNE AD
Dermatology Lecture Psoriasis ACNE AD
 
Ichthyoses
IchthyosesIchthyoses
Ichthyoses
 

En vedette

Harlequin newsjulho quinzena2
Harlequin newsjulho quinzena2Harlequin newsjulho quinzena2
Harlequin newsjulho quinzena2Tonks Neumann
 
Diarrhea, Maternal attitude, skill, knowledge a prospective study
Diarrhea, Maternal attitude, skill, knowledge a prospective studyDiarrhea, Maternal attitude, skill, knowledge a prospective study
Diarrhea, Maternal attitude, skill, knowledge a prospective studyAjay Agade
 
Infectious diseases
Infectious diseasesInfectious diseases
Infectious diseasesAjay Agade
 
Surfactant therapy
Surfactant therapySurfactant therapy
Surfactant therapyAjay Agade
 
Harlequin syndrome
Harlequin syndromeHarlequin syndrome
Harlequin syndromeReuvengrado9
 
Ichthyoses and Ichthyosiform disorders
Ichthyoses and Ichthyosiform disordersIchthyoses and Ichthyosiform disorders
Ichthyoses and Ichthyosiform disordersIbrahim Sharaf
 
Lysergic Acid Diethylamide (LSD)
Lysergic Acid Diethylamide (LSD)Lysergic Acid Diethylamide (LSD)
Lysergic Acid Diethylamide (LSD)jaymundy6
 
Special topic seminar microbial fuel cells
Special topic seminar microbial fuel cellsSpecial topic seminar microbial fuel cells
Special topic seminar microbial fuel cellsprasuna3085
 
Biodiesel from waste cooking oil
Biodiesel from waste cooking oilBiodiesel from waste cooking oil
Biodiesel from waste cooking oilAkshay Patil
 

En vedette (20)

Harlequin newsjulho quinzena2
Harlequin newsjulho quinzena2Harlequin newsjulho quinzena2
Harlequin newsjulho quinzena2
 
Cctrt
CctrtCctrt
Cctrt
 
Diarrhea, Maternal attitude, skill, knowledge a prospective study
Diarrhea, Maternal attitude, skill, knowledge a prospective studyDiarrhea, Maternal attitude, skill, knowledge a prospective study
Diarrhea, Maternal attitude, skill, knowledge a prospective study
 
Infectious diseases
Infectious diseasesInfectious diseases
Infectious diseases
 
NNR
NNRNNR
NNR
 
Surfactant therapy
Surfactant therapySurfactant therapy
Surfactant therapy
 
Hydrocephalus
HydrocephalusHydrocephalus
Hydrocephalus
 
Harlequin syndrome
Harlequin syndromeHarlequin syndrome
Harlequin syndrome
 
Encephalocele
EncephaloceleEncephalocele
Encephalocele
 
Geografia t3a
Geografia t3aGeografia t3a
Geografia t3a
 
Ichthyoses and Ichthyosiform disorders
Ichthyoses and Ichthyosiform disordersIchthyoses and Ichthyosiform disorders
Ichthyoses and Ichthyosiform disorders
 
Lsd
LsdLsd
Lsd
 
Lysergic Acid Diethylamide (LSD)
Lysergic Acid Diethylamide (LSD)Lysergic Acid Diethylamide (LSD)
Lysergic Acid Diethylamide (LSD)
 
Lsd
LsdLsd
Lsd
 
Gene Therapy of Human beta-Thalassemias
Gene Therapy of Human beta-ThalassemiasGene Therapy of Human beta-Thalassemias
Gene Therapy of Human beta-Thalassemias
 
Soyabean
SoyabeanSoyabean
Soyabean
 
Special topic seminar microbial fuel cells
Special topic seminar microbial fuel cellsSpecial topic seminar microbial fuel cells
Special topic seminar microbial fuel cells
 
Lsd presentation
Lsd presentationLsd presentation
Lsd presentation
 
Biodiesel from waste cooking oil
Biodiesel from waste cooking oilBiodiesel from waste cooking oil
Biodiesel from waste cooking oil
 
Cancer vaccine
Cancer vaccineCancer vaccine
Cancer vaccine
 

Similaire à Harlequin

Ichthyoses and ichthyosiform
Ichthyoses and ichthyosiformIchthyoses and ichthyosiform
Ichthyoses and ichthyosiformKasoka Ksk
 
Copy of case report dr osama arafa
Copy of case report dr osama arafaCopy of case report dr osama arafa
Copy of case report dr osama arafaOsama Arafa
 
Role of IVIG in the management of neonatal isoimmune hemolytic jaundice
Role of IVIG in the management of neonatal isoimmune hemolytic jaundiceRole of IVIG in the management of neonatal isoimmune hemolytic jaundice
Role of IVIG in the management of neonatal isoimmune hemolytic jaundiceAjay Agade
 
Xeroderma pigmentosum / dental course
Xeroderma pigmentosum / dental courseXeroderma pigmentosum / dental course
Xeroderma pigmentosum / dental courseIndian dental academy
 
Lamellar ichthyosis: Discussion
Lamellar  ichthyosis: DiscussionLamellar  ichthyosis: Discussion
Lamellar ichthyosis: DiscussionSrividyaSri7
 
treatment of non healing corneal ulcer
treatment of non healing corneal ulcertreatment of non healing corneal ulcer
treatment of non healing corneal ulcerikramdr01
 
Approach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalApproach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalBipin Bista
 
Approach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalApproach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalShahrukh Kc
 
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...IJCROOJournal
 
Presentation 1 exfoliation and uveitis
Presentation 1 exfoliation and uveitisPresentation 1 exfoliation and uveitis
Presentation 1 exfoliation and uveitisDr. Anand Sudhalkar
 
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...BIJCROO
 
Fetal Harlequin Ichthyosis – A Case Report
Fetal Harlequin Ichthyosis – A Case ReportFetal Harlequin Ichthyosis – A Case Report
Fetal Harlequin Ichthyosis – A Case Reportiosrjce
 
Diseases of skin.... more
Diseases of skin.... moreDiseases of skin.... more
Diseases of skin.... moreraj kumar
 
Opthalmic disease
Opthalmic diseaseOpthalmic disease
Opthalmic diseaseAmin Mirza
 
Amniotic membrane in ophthalmology
Amniotic membrane in ophthalmologyAmniotic membrane in ophthalmology
Amniotic membrane in ophthalmologyAmr Mounir
 
makalah keratoconus.pptx
makalah keratoconus.pptxmakalah keratoconus.pptx
makalah keratoconus.pptxssuserd4774c
 
The vitreous for undergraduate
The vitreous for undergraduateThe vitreous for undergraduate
The vitreous for undergraduateAbdelmonem Hamed
 

Similaire à Harlequin (20)

Ichthyoses and ichthyosiform
Ichthyoses and ichthyosiformIchthyoses and ichthyosiform
Ichthyoses and ichthyosiform
 
Copy of case report dr osama arafa
Copy of case report dr osama arafaCopy of case report dr osama arafa
Copy of case report dr osama arafa
 
Role of IVIG in the management of neonatal isoimmune hemolytic jaundice
Role of IVIG in the management of neonatal isoimmune hemolytic jaundiceRole of IVIG in the management of neonatal isoimmune hemolytic jaundice
Role of IVIG in the management of neonatal isoimmune hemolytic jaundice
 
Xeroderma pigmentosum / dental course
Xeroderma pigmentosum / dental courseXeroderma pigmentosum / dental course
Xeroderma pigmentosum / dental course
 
Ocular toxoplasmosis.pptx
Ocular toxoplasmosis.pptxOcular toxoplasmosis.pptx
Ocular toxoplasmosis.pptx
 
Lamellar ichthyosis: Discussion
Lamellar  ichthyosis: DiscussionLamellar  ichthyosis: Discussion
Lamellar ichthyosis: Discussion
 
treatment of non healing corneal ulcer
treatment of non healing corneal ulcertreatment of non healing corneal ulcer
treatment of non healing corneal ulcer
 
Approach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalApproach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmental
 
Approach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmentalApproach to cases of congenital glaucoma, developmental
Approach to cases of congenital glaucoma, developmental
 
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome – A Case ...
 
Physiology of Cornea
Physiology of CorneaPhysiology of Cornea
Physiology of Cornea
 
Presentation 1 exfoliation and uveitis
Presentation 1 exfoliation and uveitisPresentation 1 exfoliation and uveitis
Presentation 1 exfoliation and uveitis
 
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...
Bilateral Congenital Microblepharon Associated with Down’s Syndrome: A Case R...
 
Dermatology 5th year, 2nd lecture (Dr. Kazhan)
Dermatology 5th year, 2nd lecture (Dr. Kazhan)Dermatology 5th year, 2nd lecture (Dr. Kazhan)
Dermatology 5th year, 2nd lecture (Dr. Kazhan)
 
Fetal Harlequin Ichthyosis – A Case Report
Fetal Harlequin Ichthyosis – A Case ReportFetal Harlequin Ichthyosis – A Case Report
Fetal Harlequin Ichthyosis – A Case Report
 
Diseases of skin.... more
Diseases of skin.... moreDiseases of skin.... more
Diseases of skin.... more
 
Opthalmic disease
Opthalmic diseaseOpthalmic disease
Opthalmic disease
 
Amniotic membrane in ophthalmology
Amniotic membrane in ophthalmologyAmniotic membrane in ophthalmology
Amniotic membrane in ophthalmology
 
makalah keratoconus.pptx
makalah keratoconus.pptxmakalah keratoconus.pptx
makalah keratoconus.pptx
 
The vitreous for undergraduate
The vitreous for undergraduateThe vitreous for undergraduate
The vitreous for undergraduate
 

Plus de Ajay Agade (20)

Ppt fl & el
Ppt fl & elPpt fl & el
Ppt fl & el
 
Cmp
CmpCmp
Cmp
 
Af
AfAf
Af
 
Macid and Malk
Macid and MalkMacid and Malk
Macid and Malk
 
Ebl
EblEbl
Ebl
 
Frsh
FrshFrsh
Frsh
 
Stat
StatStat
Stat
 
Ag
AgAg
Ag
 
Ldp
LdpLdp
Ldp
 
Honc
HoncHonc
Honc
 
Pbs
PbsPbs
Pbs
 
05 peripheral blood smear examination
05 peripheral blood smear examination 05 peripheral blood smear examination
05 peripheral blood smear examination
 
Ren
RenRen
Ren
 
Cd
CdCd
Cd
 
Os grp
Os grpOs grp
Os grp
 
Pe
PePe
Pe
 
Presentation1
Presentation1Presentation1
Presentation1
 
Nsi
NsiNsi
Nsi
 
Pdd
PddPdd
Pdd
 
Abg
AbgAbg
Abg
 

Dernier

What is the Future of QuickBooks DeskTop?
What is the Future of QuickBooks DeskTop?What is the Future of QuickBooks DeskTop?
What is the Future of QuickBooks DeskTop?TechSoup
 
The basics of sentences session 10pptx.pptx
The basics of sentences session 10pptx.pptxThe basics of sentences session 10pptx.pptx
The basics of sentences session 10pptx.pptxheathfieldcps1
 
KARNAADA.pptx made by - saransh dwivedi ( SD ) - SHALAKYA TANTRA - ENT - 4...
KARNAADA.pptx  made by -  saransh dwivedi ( SD ) -  SHALAKYA TANTRA - ENT - 4...KARNAADA.pptx  made by -  saransh dwivedi ( SD ) -  SHALAKYA TANTRA - ENT - 4...
KARNAADA.pptx made by - saransh dwivedi ( SD ) - SHALAKYA TANTRA - ENT - 4...M56BOOKSTORE PRODUCT/SERVICE
 
How to Make a Field read-only in Odoo 17
How to Make a Field read-only in Odoo 17How to Make a Field read-only in Odoo 17
How to Make a Field read-only in Odoo 17Celine George
 
How to Create a Toggle Button in Odoo 17
How to Create a Toggle Button in Odoo 17How to Create a Toggle Button in Odoo 17
How to Create a Toggle Button in Odoo 17Celine George
 
3.21.24 The Origins of Black Power.pptx
3.21.24  The Origins of Black Power.pptx3.21.24  The Origins of Black Power.pptx
3.21.24 The Origins of Black Power.pptxmary850239
 
EBUS5423 Data Analytics and Reporting Bl
EBUS5423 Data Analytics and Reporting BlEBUS5423 Data Analytics and Reporting Bl
EBUS5423 Data Analytics and Reporting BlDr. Bruce A. Johnson
 
A gentle introduction to Artificial Intelligence
A gentle introduction to Artificial IntelligenceA gentle introduction to Artificial Intelligence
A gentle introduction to Artificial IntelligenceApostolos Syropoulos
 
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...Dr. Asif Anas
 
CapTechU Doctoral Presentation -March 2024 slides.pptx
CapTechU Doctoral Presentation -March 2024 slides.pptxCapTechU Doctoral Presentation -March 2024 slides.pptx
CapTechU Doctoral Presentation -March 2024 slides.pptxCapitolTechU
 
Quality Assurance_GOOD LABORATORY PRACTICE
Quality Assurance_GOOD LABORATORY PRACTICEQuality Assurance_GOOD LABORATORY PRACTICE
Quality Assurance_GOOD LABORATORY PRACTICESayali Powar
 
10 Topics For MBA Project Report [HR].pdf
10 Topics For MBA Project Report [HR].pdf10 Topics For MBA Project Report [HR].pdf
10 Topics For MBA Project Report [HR].pdfJayanti Pande
 
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptx
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptxSlides CapTechTalks Webinar March 2024 Joshua Sinai.pptx
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptxCapitolTechU
 
5 charts on South Africa as a source country for international student recrui...
5 charts on South Africa as a source country for international student recrui...5 charts on South Africa as a source country for international student recrui...
5 charts on South Africa as a source country for international student recrui...CaraSkikne1
 
3.26.24 Race, the Draft, and the Vietnam War.pptx
3.26.24 Race, the Draft, and the Vietnam War.pptx3.26.24 Race, the Draft, and the Vietnam War.pptx
3.26.24 Race, the Draft, and the Vietnam War.pptxmary850239
 
Ultra structure and life cycle of Plasmodium.pptx
Ultra structure and life cycle of Plasmodium.pptxUltra structure and life cycle of Plasmodium.pptx
Ultra structure and life cycle of Plasmodium.pptxDr. Asif Anas
 
How to Manage Cross-Selling in Odoo 17 Sales
How to Manage Cross-Selling in Odoo 17 SalesHow to Manage Cross-Selling in Odoo 17 Sales
How to Manage Cross-Selling in Odoo 17 SalesCeline George
 
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...Nguyen Thanh Tu Collection
 

Dernier (20)

Personal Resilience in Project Management 2 - TV Edit 1a.pdf
Personal Resilience in Project Management 2 - TV Edit 1a.pdfPersonal Resilience in Project Management 2 - TV Edit 1a.pdf
Personal Resilience in Project Management 2 - TV Edit 1a.pdf
 
What is the Future of QuickBooks DeskTop?
What is the Future of QuickBooks DeskTop?What is the Future of QuickBooks DeskTop?
What is the Future of QuickBooks DeskTop?
 
The basics of sentences session 10pptx.pptx
The basics of sentences session 10pptx.pptxThe basics of sentences session 10pptx.pptx
The basics of sentences session 10pptx.pptx
 
Prelims of Kant get Marx 2.0: a general politics quiz
Prelims of Kant get Marx 2.0: a general politics quizPrelims of Kant get Marx 2.0: a general politics quiz
Prelims of Kant get Marx 2.0: a general politics quiz
 
KARNAADA.pptx made by - saransh dwivedi ( SD ) - SHALAKYA TANTRA - ENT - 4...
KARNAADA.pptx  made by -  saransh dwivedi ( SD ) -  SHALAKYA TANTRA - ENT - 4...KARNAADA.pptx  made by -  saransh dwivedi ( SD ) -  SHALAKYA TANTRA - ENT - 4...
KARNAADA.pptx made by - saransh dwivedi ( SD ) - SHALAKYA TANTRA - ENT - 4...
 
How to Make a Field read-only in Odoo 17
How to Make a Field read-only in Odoo 17How to Make a Field read-only in Odoo 17
How to Make a Field read-only in Odoo 17
 
How to Create a Toggle Button in Odoo 17
How to Create a Toggle Button in Odoo 17How to Create a Toggle Button in Odoo 17
How to Create a Toggle Button in Odoo 17
 
3.21.24 The Origins of Black Power.pptx
3.21.24  The Origins of Black Power.pptx3.21.24  The Origins of Black Power.pptx
3.21.24 The Origins of Black Power.pptx
 
EBUS5423 Data Analytics and Reporting Bl
EBUS5423 Data Analytics and Reporting BlEBUS5423 Data Analytics and Reporting Bl
EBUS5423 Data Analytics and Reporting Bl
 
A gentle introduction to Artificial Intelligence
A gentle introduction to Artificial IntelligenceA gentle introduction to Artificial Intelligence
A gentle introduction to Artificial Intelligence
 
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...
Unveiling the Intricacies of Leishmania donovani: Structure, Life Cycle, Path...
 
CapTechU Doctoral Presentation -March 2024 slides.pptx
CapTechU Doctoral Presentation -March 2024 slides.pptxCapTechU Doctoral Presentation -March 2024 slides.pptx
CapTechU Doctoral Presentation -March 2024 slides.pptx
 
Quality Assurance_GOOD LABORATORY PRACTICE
Quality Assurance_GOOD LABORATORY PRACTICEQuality Assurance_GOOD LABORATORY PRACTICE
Quality Assurance_GOOD LABORATORY PRACTICE
 
10 Topics For MBA Project Report [HR].pdf
10 Topics For MBA Project Report [HR].pdf10 Topics For MBA Project Report [HR].pdf
10 Topics For MBA Project Report [HR].pdf
 
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptx
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptxSlides CapTechTalks Webinar March 2024 Joshua Sinai.pptx
Slides CapTechTalks Webinar March 2024 Joshua Sinai.pptx
 
5 charts on South Africa as a source country for international student recrui...
5 charts on South Africa as a source country for international student recrui...5 charts on South Africa as a source country for international student recrui...
5 charts on South Africa as a source country for international student recrui...
 
3.26.24 Race, the Draft, and the Vietnam War.pptx
3.26.24 Race, the Draft, and the Vietnam War.pptx3.26.24 Race, the Draft, and the Vietnam War.pptx
3.26.24 Race, the Draft, and the Vietnam War.pptx
 
Ultra structure and life cycle of Plasmodium.pptx
Ultra structure and life cycle of Plasmodium.pptxUltra structure and life cycle of Plasmodium.pptx
Ultra structure and life cycle of Plasmodium.pptx
 
How to Manage Cross-Selling in Odoo 17 Sales
How to Manage Cross-Selling in Odoo 17 SalesHow to Manage Cross-Selling in Odoo 17 Sales
How to Manage Cross-Selling in Odoo 17 Sales
 
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...
CHUYÊN ĐỀ DẠY THÊM TIẾNG ANH LỚP 11 - GLOBAL SUCCESS - NĂM HỌC 2023-2024 - HK...
 

Harlequin

  • 1. Slide 1 © 2003 By Default! HARLEQUIN ICHTHYOSIS a case report Dr. Shantanu Gomase 2nd year DNB Dept. Of Pediatrics J.L.N.H. Bhilai Steel Plant A Free sample background from www.awesomebackgrounds.com
  • 2. Slide 2 © 2003 By Default! Clinical details  Term  Male  2 kg  Normal delivery A Free sample background from www.awesomebackgrounds.com
  • 3. Slide 3 © 2003 By Default!  Head :Absence of hair Hyperkeratotic scale  Eyes: Severe ectropion is present. Conjuctival congestion  Pinna : Small and rudimentary.  Nose : Flattened  Lips: Severe traction on the lips A Free sample background from www.awesomebackgrounds.com
  • 4. Slide 4 © 2003 By Default!  Skin: Severely thickened skin with large, shiny plates of hyperkeratotic scale. Deep erythematous fissures separate the scales. A Free sample background from www.awesomebackgrounds.com
  • 5. Slide 5 © 2003 By Default! A Free sample background from www.awesomebackgrounds.com
  • 6. Slide 6 © 2003 By Default! HARLEQUIN ICHTHYOSIS The term harlequin derives from the newborn's facial expression and the triangular and diamond-shaped pattern of hyperkeratosis like that of a dress of harlequin clown. SYNONYMS : Ichthyosis congenita, keratosis diffusa fetalis, harlequin fetus . A Free sample background from www.awesomebackgrounds.com
  • 7. Slide 7 © 2003 By Default!  Internationally more than 100 cases have been reported.  Race: No racial predilection is known.  Sex: No increased risk based on sex is known A Free sample background from www.awesomebackgrounds.com
  • 8. Slide 8 © 2003 By Default! GENETICS  Mutations in the ABCA12 gene on chromosome no 2 cause harlequin ichthyosis.  Autosomal recessive inheritance.  This disorder occurs in consanguineous relationships and multiple siblings within a family can be affected. A Free sample background from www.awesomebackgrounds.com
  • 9. Slide 9 © 2003 By Default! CLINICAL FEATURES SKIN Severely thickened skin with large and shiny plates of hyperkeratotic scale is present at birth. Deep erythematous fissures separate the scales. Ears Pinna may be small and rudimentary or absent. A Free sample background from www.awesomebackgrounds.com
  • 10. Slide 10 © 2003 By Default! EYES Severe ectropion is present. The free edges of the upper and lower eyelids are everted, leaving the conjunctivae at risk for trauma. A Free sample background from www.awesomebackgrounds.com
  • 11. Slide 11 © 2003 By Default! LIPS: Severe traction on the lips causes eclabium and a fixed, open mouth. NOSE: Nasal hypoplasia and eroded nasal alae may occur. A Free sample background from www.awesomebackgrounds.com
  • 12. Slide 12 © 2003 By Default! PATHOGENESIS  All patients with harlequin ichthyosis have absent or defective lamellar granules and no intercellular lipid lamellae.  These granules are responsible for secreting lipids that maintain the skin barrier at the interface between the granular cell layer and the cornified layer.  The lipid abnormality is believed to allow excessive transepidermal water loss; lack of released hydrolases prevents desquamation, resulting in a severe retention hyperkeratosis A Free sample background from www.awesomebackgrounds.com
  • 13. Slide 13 © 2003 By Default! TREATMENT  Ensure airway, breathing, and circulation after delivery.  Place infants in a humidified incubator.  Monitor temperature, respiratory rate, heart rate, and oxygen saturation.  Maintain a sterile environment to avoid infection , IV Antibiotics A Free sample background from www.awesomebackgrounds.com
  • 14. Slide 14 © 2003 By Default! Intravenous access: Peripheral access is difficult. Umbilical cannulation may be necessary. Eye care: Ophthalmic lubricants to protect the conjunctivae. Skin care: Bathe infants twice daily. Use frequent applications of wet sodium chloride compresses followed by bland lubricants to soften hard skin and to facilitate desquamation A Free sample background from www.awesomebackgrounds.com
  • 15. Slide 15 © 2003 By Default! Fluid and electrolyte:  Intravenous fluids are almost always required  Consider excess cutaneous water losses in daily fluid requirement calculations.  Monitor serum electrolyte levels. A risk of hypernatremic dehydration exists. A Free sample background from www.awesomebackgrounds.com
  • 16. Slide 16 © 2003 By Default!  Retinoids These agents decrease the cohesiveness of abnormal hyperproliferative keratinocytes. They modulate keratinocyte differentiation.  Isotretinoin 0.5 mg/kg/d PO A Free sample background from www.awesomebackgrounds.com
  • 17. Slide 17 © 2003 By Default! COMPLICATIONS  Gram-positive and gram-negative sepsis.  Relapses of severe ichthyosis with eclabium and ectropion occur.  Contractures and painful fissuring of the hands and the feet may occur without adequate topical or systemic therapy. A Free sample background from www.awesomebackgrounds.com
  • 18. Slide 18 © 2003 By Default! PROGNOSIS  Fulminant sepsis remains the most common cause of death in these infants.  Life expectancy is unknown: A report of survival to 9 years of age has been published.  Mortality/Morbidity: The mortality rate is high. With neonatal intensive care and the advent of retinoid therapy, some babies have survived they are still at risk of succumbing to systemic infection, which is the most common cause of death. A Free sample background from www.awesomebackgrounds.com
  • 19. Slide 19 © 2003 By Default! PRENATAL DIAGNOSIS  Amniotic fluid samples obtained as early as 17 weeks’ gestation have demonstrated hyperkeratosis and abnormal lipid droplets within the cornified cells.  Fetal skin biopsy can detect harlequin ichthyosis as early as 20 weeks’ gestation  Antenatal USG can be used to identify harlequin ichthyosis but not until late in the second trimester when enough keratin buildup is present to be sonographically detectable. A Free sample background from www.awesomebackgrounds.com
  • 20. Slide 20 © 2003 By Default! THANK YOU A Free sample background from www.awesomebackgrounds.com