Sunteți pe pagina 1din 21

ICHTHYOSES

ICHTHYOSIFORM DERMATOSES
A heterogenous group of disorders Presenting with excessive scaling of skin Greek word ichthy = fish Inherited form is the most common Can occur secondary to other diseases

EPIDEMIOLOGY
Ichthyoses vulgaris: autosomal dominant, 1:250
X-linked ichthyoses: X-linked recessive, 1: 6000 Epidermolytic hyperkeratosis: autosomal dominant, 1 : 300 000 Congenital ichthyosiform erythroderma (CIE): autosomal recessive, 1 : 100 000 Lamellar ichthyoses: autosomal recessive, 1: 300 000

Harlequin fetus: autosomal recessive, rare

DIAGNOSIS
History Onset of symptoms Location of skin changes Birth history Condition of infants skin at the time of birth

Investigation Skin biopsy = diagnostic

ICHTHYOSES VULGARIS
HISTORY School age PMH or atopy / family history of atopy
bilateral hyperkeratotic xerosis CLINICAL FEATURES keratosis pilaris Hyperlinearity of palms and soles Generalized xerosis ( abnormal dryness of the skin or mucus membranes, scaly, itchy, and red. Fine cracks may appear) Sparing of flexural areas Follicular accentuation (keratosis pilaris ) - appearance of rough bumps on the skin, completely harmless

INVESTIGATION Not diagnosable by laboratory testing Skin biopsy: decreased granular layer assoc. with moderate hyperkeratosis

Corneal xerosis (dry granular surface)

X-LINKED ICHTHYOSES
PATHOPHYSIOLOGY Gene defect: steroid sulfatase (enzyme in cholesterol synthesis vital for a normal stratum corneum) Defects in enzyme - buildup of cholesterol sulfate and a decrease in tissue cholesterol Disturbance in steroid hormone metabolism cryptic testes in males, placental dysfunction in female carriers Assoc. with corneal opacities rarely lead to visual disturbance HISTORY Present by 1 year of age Skin changes worsen with age CLINICAL FEATURES Affects posterior neck: dirty-appearing scales Spares palms and soles Neck, face and trunk ultimately develop thick, brown scales INVESTIGATION Skin biopsy: Normal granular layer with hyperkeratosis

Congenital Ichthyoses Presenting In Neonatal Period


1. Collodian baby
Causes: CIE = most common, lamellar, Nethertons syndrome, Conradis syndrome
Features: newborn infant with skin looks like baked apple shiny, tough, membrane-like covering child is born encased in a translucent, parchment-like membrane that is taut and may impair respiration and sucking Complications: 1. Infections 2. fluid & electrolytes imbalances (due to cutaneous fissures and impaired barrier function of skin) Mx: 1. high-humidity environment (gradual sloughing of collodian membrane) 2. Topical vitamin D analogues, calcipotriene, calcipotriol (SE: calcium metabolism abnormalities) 3. Not recommended: manual debridement, keratolytics

Congenital Ichthyoses Presenting In Neonatal Period


2. Epidermolytic hyperkeratosis: Widespread denuded areas, bullae, later developed hyperkeratotic component (bullous CIE) 3. Harlequin fetus: Severely affected, born with massive hyperkeratotic plates, limb deformities, rudimentary ears, ectropion, eclabium, rarely survive beyond 1st week of life (Rx = acitretin)

This 1-day-old boy was noted to have thick parchmentlike collodion membrane shortly after birth. He also had obstruction of the nares by amniotic casts, diffuse erythema and thick parchment-like skin with ectropian and eclabian.

Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital Harlequin type ichthyosis Eclabium means the turning outwards of a lip. This healthy boy had a collodion membrane with thick scale, generalized tight glistening skin with ectropian and eclabian covered with emollient

(A) 14-year old boy with X-linked recessive

ichthyosis (XLRI), (B) increased mobility of beta-lipoprotein in comparison with a normal control, indicating sulfatase deficiency in (XLRI), (C) non-bullous congenital ichthyosiform erythroderma (NCIE) in a newborn with pronounced scaling and minimal ectropion, (D) screening assay for transglutaminase-1 deficiency, which indicates a lack of transglutaminase activity in the epidermis of a child with lamellar icthhyosis (LI), (E) generalised dark, large scaling in LI, (F) Selfhealing collodion baby (SHCB) after 1 week and (G) 3 months, (H) Harlequin ichthyosis (HI) with constriction of the fingers, (I) exfoliative hyperkeratosis and erythema in bullous ichthyosiform erythroderma (BIE) of Brocq, (J) moulting phenomenon in ichthyosis bullosa of Siemens (IBS), (K) male baby with IFAP syndrome, (L) marked, brown lichenification in Sjgren Larsson syndrome (SLS), (M) neonate with Netherton syndrome (NTS) showing congenital ichthyosiform erythroderma, (N) trichorrhexis invaginata, (O) immunochemical lack of LEKTI in NTS epidermis, (P) compared with healthy skin.

ACQUIRED ICHTHYOSES
Nonhereditary causes of dry scaling skin: Malignancies unknown pathogenesis of skin changes - reduced dermal lipid synthesis, malabsorption, immunologic abnormalities Nutritional disorders abnormal vitamin A metabolism; CRF with hypervitaminosis A rough, scaly skin; hypovitaminosis A follicular hyperkeratosis, dry skin Drug therapy niacin, triparanol, butyrophenones, dixyrazine, nafoxidine alter cholesterol synthesis; cimetidine, retinoids reduce sebum secretion Miscellanoeus conditions

LABORATORY TESTS
Ichthyoses Vulgaris Cultured keratinocytes: absent/reduced flaggarin in keratohyaline granules Light microscopy: flaggarin fail to react to antiflaggarin monoclonal antibodies X-linked Ichthyoses Steroid sulfatase assay in cultured keratinocytes, fibroblasts, leukocytes, scales Low blood levels of cholesterol sulfatase by increased mobility of LDL on serum protein electrophoresis Female heterozygotes on Southern blot hybridization from peripheral blood leukocytes Rare Ichthyosiform Syndromes (with enzyme deficiencies detectable in cell cultures) 1. Conradi-Hunermann disease: sterol isomerase emopamil binding protein 2. Sjogren-Larsson syndrome: fatty aldehyde dehydrogenase deficiency 3. Refsums disease: phytanoyl-CoA hydroxyase deficiency 4. Chanarin-Dorfman syndrome: abnormal fatty acid metabolism, triglycerides vacuoles indentifiable in PMN cells and monocytes in PBS

PRENATAL DIAGNOSIS
Done if suspected based on family history

1. Fetal skin biopsy at 19-21 weeks: early development of thickened stratum corneum (normally not present before 24 weeks). Useful in LI, EH, SLS, HF 2. Transglutaminase activity assay from a fetal skin sample (LI) 3. Direct gene sequencing done on chorionic villus sampling in 2nd trimester (EH mutations in keratin 1-10) 4. Cultured chorionic villi cells/amniocytes: (XLI, SLS, RD enzyme deficiency) 5. High ratio of maternal urinary oestrogen precursors in a male fetus (dx of XLI) 6. Unscheduled DNA synthesis in cultured amniocytes exposed to UV light (trichothiodystrophy)

TREATMENT
ACQUIRED: improves with treatment of underlying condition CONGENITAL: difficult to treat (especially in severe forms) 1. Topical emollients containing glycolic acid, lactic acid, urea, glycerin: improved dryness, scaling 2. Topical tretinoin (Retin-A): effective but poorly-tolerated (irritation) 3. Oral retinoids (isotretinoin, etretinate, acitretin): very effective but relapses after completion of treatment are common, major SE (teratogenic, hyperostoses with chronic use) 4. C&S and oral antibiotics (blistering due to bacterial infections) 5. Oral liarozole fumarate (cytochrome P-450 inhibitor): new 6. Antibacterial soap (foul odour in epidermolytic hyperkeratosis due to bacterial colonization)