ichthyosis

ICHTHYOSIS : 

By. Dr. Deepak Kumar ICHTHYOSIS

ICHTHYOSIS : 

ICHTHYOSIS Dry, rough skin characterized by Persistent pattern of scaling Without mucosal involvement Or extracutaneous disease

CONGENITAL ICHTHYOSES : 

CONGENITAL ICHTHYOSES Ichthyosis vulgaris X-linked recessive ichthyosis Non-bullous ichthyosiform erythroderma Bullous ichthyosiform erythroderma Ichthyosis bullosa of siemens Lamellar ichthyosis Harlequin ichthyosis Ichthyosis hystrix

ICHTHYOSIFORM SYNDROMES : 

ICHTHYOSIFORM SYNDROMES Netherton’s syndrome Sjogren Larson Syndrome Refsum’s disease Neutral lipid storage disease IBIDS syndrome KID syndrome CHILD syndrome

ICHTHYOSIS VULGARIS : 

ICHTHYOSIS VULGARIS Autosomal dominant Association with atopic disease AETIOLOGY: Histidine ↓ in granular layer -> Absent Profilaggrin HISTOPATHOLOGY: Hyperkeratosis Absent granular layer Electron microscopy – scanty, fragmented keratohyaline granules.

ICHTHYOSIS VULGARIS : 

ICHTHYOSIS VULGARIS CLINICAL FEATURES Dry rough scaling at birth Scales White or grey, small, flaky Extensor surfaces of arms & lower legs Sparing flexural surfaces Palmoplantar hyperlinearity Pruritis with excoriation .. coexistent eczema Improves in summer & with increasing age

ICHTHYOSIS VULGARIS : 

ICHTHYOSIS VULGARIS

ICHTHYOSIS VULGARIS : 

ICHTHYOSIS VULGARIS D/D Atopic xerosis Eczema Craquele Acquired Ichthyosis TREATMENT Emolients & Keratolytics Alpha Hydroxy acids (Fruit Acids) Topical 12% Amm. Lactate lotion Creamy soaps & Tar shampoos Evening Primrose oil

X-LINKED ICHTHYOSIS : 

X-LINKED ICHTHYOSIS AETIOLOGY Deficiency of cholesterol sulphatase in skin & other tissues HISTOPATHOLOGY Expanded stratum corneum Normal granular layer Ultrastructure Persistent desmosomes Prominent corneal melanosomes

X-LINKED ICHTHYOSIS : 

X-LINKED ICHTHYOSIS CLINICAL FEATURES Gen. scaling at birth Extensor as well as flexure surfaces involved. Sparing palms & soles scale is medium to large, polygonal, adherent, dull Light to dark brown Spreading up from the lower legs to trunk

X-LINKED ICHTHYOSIS : 

EXTRACUTANEOUS FEATURES Testicular maldescent Testicular cancers Unilat. renal agenesis Corneal opacities OBSTETRIC COMPLICATIONS Prolonged labour IUGR X-LINKED ICHTHYOSIS

X-LINKED ICHTHYOSIS : 

X-LINKED ICHTHYOSIS TREATMENT Emolient, Keratolytics & Urea 10% cholesterol cream -- 3 to 5 weeks Short / Intermittent – Retinoids Review by endocrinologist.

Collodion baby : 

Transient appearance at birth & neonatal period Of A Baby Who Subsequently Develops Congenital ichthyosiform erythroderma. Pathogenesis Defective stratum corneum Associated with the collodion membrane Desiccates and peels off. Collodion baby

Collodion baby : 

Clinical features Generalized glistening, taut, yellowish film Stretched over the skin Skin markings are obliterated Ectropion and eclabion Pinnae flattened & nostrils obstructed Collodion baby

Collodion baby : 

Complications Renal failure and dehydration Hypothermia and bacterial sepsis Management Infants require intensive nursing care Emolient (W.S.P) 4 hourly Eye care Collodion baby

Collodion baby : 

Collodion baby

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA : 

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA Autosomal recessive Aetiology Keratin 6,16,17– mutation Decreased B Glucosidase in epidermis Pathogenesis Epidermal hyperplasia Increased mitoses and hyperproliferative keratins K6/K16/K17

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA : 

HISTOPATHOLOGY Hyperkeratosis Mildly increased stratum corneum Normal/ increased granular layer Increased mitoses Ultrastructure Lamellar bodies Retained in corneal layer NON BULLOUS ICHTHYOSIFORM ERTHRODERMA

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA : 

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA CLINICAL FEATURES: Collodian baby at birth Erythroderma -- persistent Scales Feathery on face,arms & trunk Lamellar on legs Scaling may be cyclical Palmoplantar keratoderma Nail ridging, subungual hyperkeratosis Short stature

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA : 

NON BULLOUS ICHTHYOSIFORM ERTHRODERMA D/D :- Congenital Erythroderma Lamellar ichthyosis Psoriasis TREATMENT:- Regular emolients Systemic Retinoids -- T.O.C Acitretin -- .5-7.5mg/kg /day for 2 weeks

LAMELLAR ICHTHYOSIS : 

LAMELLAR ICHTHYOSIS Autosomal Recessive Condition AETIOLOGY Mutation of transglutaminase 1 gene on chr. 14 HISTOPATHOLOGY Orthohyperkeratosis Stratum corneum thickness twice of NBIE Normal granular layer Papillomatosis Blunt rete ridges

LAMELLAR ICHTHYOSIS : 

LAMELLAR ICHTHYOSIS CLINICAL FEATURES Collodian baby at birth Gen.or localized scaling on scalp, abdomen & legs Large , brown ,adherent, plate like scales Absent pruritis & erythroderma Palmoplantar keratoderma Fissures ,Sclerodactyly & Contractures Sweating is severely impaired Growth is delayed

LAMELLAR ICHTHYOSIS : 

Mild LI Plate-like scale On the lower legs & upper arms Fine grey scales on the flexures and neck Mild erythema Focal hypohidrosis, Hyperlinear palms and soles LAMELLAR ICHTHYOSIS

LAMELLAR ICHTHYOSIS : 

LAMELLAR ICHTHYOSIS

LAMELLAR ICHTHYOSIS : 

LAMELLAR ICHTHYOSIS D /D X- linked Ichthyosis Collodian memb. ichthyosis TREATMENT Emolients & Keratolytics Calcipotriol 10% Urea with N –acetyl cystiene Tazarotene 0.05% Oral Retinoid -> Severe cases

LAMELLAR ICHTHYOSIS : 

LAMELLAR ICHTHYOSIS

HARLEQUIN ICHTHYOSIS : 

HARLEQUIN ICHTHYOSIS Autosomal recessive condition AETIOLOGY Keratin 1,6,16 & Calpain1 Lipid deposition in Lamellar bodies HISTOPATHOLOGY Orthohyperkeratosis Parakeratosis Stratum corneum vacuolation Reduced granular layer

HARLEQUIN ICHTHYOSIS : 

HARLEQUIN ICHTHYOSIS CLINICAL FEATURES Infant in a rigid, taut, yellow-brown Adherent thick skin Coat of Armour-over body surface Cast Splits- Fissures-Harlequins costume Microcephaly, ectropion & eclabium Edematous hands & feet

HARLEQUIN ICHTHYOSIS : 

HARLEQUIN ICHTHYOSIS

HARLEQUIN ICHTHYOSIS : 

HARLEQUIN ICHTHYOSIS COMPLICATIONS Restricted movement & resp. insufficiency Hypoglycemia, hypothermia & sepsis Renal Failure, osteomalacia & short stature D/D:- Restrictive dermopathy Chrysalis babies Stiff skin syndrome

HARLEQUIN ICHTHYOSIS : 

HARLEQUIN ICHTHYOSIS TREATMENT:- Neonatal intensive care Emolients & oil bath Early retinoid therapy Plastic surgery

BULLOUS ICHTHYOSIFORM ERYTHRODERMA : 

BULLOUS ICHTHYOSIFORM ERYTHRODERMA Autosomal dominant AETIOLOGY:- Keratin 1 & 10 HISTOPATHOLOGY Epidermal Hyperkeratosis Intercellular spaces …. Granular layer splits

BULLOUS ICHTHYOSIFORM ERYTHRODERMA : 

BULLOUS ICHTHYOSIFORM ERYTHRODERMA CLINICAL FEATURES:- Erythroderma & epidermolysis at birth Flaccid blisters At site of trauma Focal hyperkeratosis Scalp & flexures Disapp. Of blisters & erythroderma at adulthood Distinctive body odour Alopecia ,sclerodactyly & foot deformity

Bullous ichthyosiform erythroderma : 

Bullous ichthyosiform erythroderma Yellow–brown, waxy Ridged or corrugated scale In skin creases

BULLOUS ICHTHYOSIFORM ERYTHRODERMA : 

BULLOUS ICHTHYOSIFORM ERYTHRODERMA D/D:- NEONATAL Epidermolysis Bullosa Staphylococcal Scalded Skin Syndrome Herpetic infections ADULTHOOD Ichthyosis Hystrix Ichth.Bullosa Of Siemens TREATMENT:- Keratolytic-> T . O . C Calcipotriol Antiseptics & Antibiotics Retinoids -> Resistant cases

ICTHYOSIS BULLOSA OF SIEMENS : 

ICTHYOSIS BULLOSA OF SIEMENS Autosomal dominant. Variant of BIE Aetiology: Keratin 1,10 &2e gene mutation. Histopathology: Epidermolytic hyperkeratosis Intracorneal blistering.

ICTHYOSIS BULLOSA OF SIEMENS : 

ICTHYOSIS BULLOSA OF SIEMENS CLINICAL FEATURES: Superficial blistering Site: flexures, shins, abdomen. Grey hyperkeratosis. MAUSERUNG scaling No erythroderma PPK & body odour. TREATMENT Emolients Keratolytics

ICHTHYOSIS HYSTRIX : 

ICHTHYOSIS HYSTRIX Autosomal dominant condition “Hystrix” Spine Limited Or Naevoid Forms AETIOLOGY Mutation of keratin 1 in spinous layer

ICHTHYOSIS HYSTRIX : 

ICHTHYOSIS HYSTRIX CLINICAL FEATURES Gen. or Naevoid scaly erythema Hystrix Scaling on Extensors & Trunk Naevoid lesions -- Lines of Blaschko -- Acral sites P P K -- Diffuse or striate COMPLICATIONS Squamous cell carcinoma

NETHERTON’S SYNDROME : 

NETHERTON’S SYNDROME AETIOLOGY SPINK 5 enzyme gene SYNDROME: Ichthyosis - erythroderma & scaling Flexural papillomatosis-- sq.& basal cell Ca Trichorrhexis Invaginata -- alopecia Atopic eczema

NETHERTON’S SYNDROME : 

NETHERTON’S SYNDROME

SJOGREN LARSON SYNDROME : 

SJOGREN LARSON SYNDROME AETIOLOGY Fatty alcohol oxidoreductase --Lipid aggregation SYNDROME: Ichthyosis-Lamellar scaling on Face & Limbs Lichenified hyperkeratosis on Flexures Spastic paraperesis and mental retardation Short stature and Hip dislocation Retinopathy-blindness TREATMENT Fatty Acid supplements->6 months

SJOGREN LARSON SYNDROME : 

SJOGREN LARSON SYNDROME

REFSUM’S DISEASE : 

REFSUM’S DISEASE AETIOLOGY: Impaired oxidation of Phytanic Acid->lipid droplets SYNDROME: Sensorimotor Polyneuropathy- weakness & foot drop Diffuse scaling -- Adolescence Retinitis pigmentosa -- night blindness TREATMENT:- High carbohydrate – Avoid Phytanic Acid (green vegetables) Plasmapheresis – severely ill

NEUTRAL LIPID STORAGE DISEASE : 

NEUTRAL LIPID STORAGE DISEASE AETIOLOGY: Mutation of CG1-58 on chr.3 Triglycride in keratinocytes & fibroblast SYNDROME: Ichthyosis collodian baby & erythrodrma Lamellar scaling -> legs Hepatosplenomegaly & malabsorption Proximal Myopathy Mental retardation Deafness & ataxia Cataracts TREATMENT: Reduce intake of long chain fatty acid

Slide 46: 

NEUTRAL LIPID STORAGE DISEASE

KID SYNDROME : 

KID SYNDROME AETIOLOGY: Connexins protein mutation SYNDROME: K-> Keratitis I->Ichthyosis: Spiny -- Flexures & Limbs Plaques -- Scalp,ear & Perioral rugae D->Deafness

CHILD SYNDROME : 

CHILD SYNDROME SYNDROME: CH->Congenital Hemidysplasia I->Ichthyosis Midline demarcated plaques Bands of normal & ichthyotic skin LD->Limb Defects

THANK YOU : 

THANK YOU