Revised nomenclature and classification of inherited ichthyoses ...

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620 Oji et al JAM ACAD DERMATOL OCTOBER 2010 Table IX. Autosomal ichthyosis syndromes with prominent hair abnormalities: summary of clinical and morphologic findings NS IHS IHSC syndrome* Mode of inheritance AR AR AR Onset At birth (or later) At birth At birth (or shortly after) Initial clinical CIE in most of cases, collodion LI, severe hypotrichosis, absent Mild scaling, neonatal jaundice presentation membrane rare, ILC, atopic eyebrows and eyelashes with hepatomegaly, frontal dermatitis-like lesions alopecia in early childhood Disease course Mild to severe, spontaneous Over time, scalp hair growth Mild ichthyosis, liver Cutaneous findings remissions, and relapses and appearance/color may improve involvement variable Skin distribution Localized (ILC type) or Generalized, including scalp, Predominant on trunk generalized (CIE type) face may be unaffected Scaling type Fine or large, double-edged scales (ILC) Coarse, platelike, adherent Fine to polygonal, thin Scaling color White Brown to dark Normal Erythema Frequent, varying from moderate to severe, may improve with age Unusual Unusual Palmoplantar involvement Possible No No Hypohidrosis No Yes No Scalp Short, fragile, and brittle hair; Hypotrichosis in youth, sparse, Major criterion: coarse thick hair, abnormalities alopecia (hair, lashes, and unruly hair in adolescence, frontotemporal scarring eyebrows); spontaneous recessing frontal hairline in alopecia; hypotrichosis, remissions and relapses adults curly/woolly hair Other skin findings Severe pruritus, prone to bacterial and viral (HPV) skin infections Follicular atrophoderma Extracutaneous HS abnormalities, failure to Sparse and curly eyebrows, Major criterion: sclerosing involvement thrive, severe atopic diathesis, occasionally photophobia cholangitis or congenital increased IgE level and eosinophilia, frequent skin infections (Staphylococcus aureus or HPV) and pingueculum paucity of bile ducts y Risk of death Life-threatening neonatal Normal Not observed, but theoretically hypernatremic dehydration, possible from liver and sepsis involvement Skin ultrastructure Suppressed keratinization, thin High presence of intact Splitting of desmosomal or absent SC and SG, corneodesmosomes in upper anchoring plaques in SG reduction of SC, residues of membranous corneodesmosomes, intercorneal clefts structures in SC Other analyses Trichorrhexis invaginata: highly Hair microscopy may reveal Liver function tests, diagnostic (usually after 1 y), dysplastic hair, pili torti, or pili cholangiography, liver biopsy but inconsistent; skin immunochemistry: absent or reduced expression of LEKTI bifurcate AR, Autosomal recessive; CIE, congenital ichthyosiforme erythroderma; HPV, human papillomavirus; HS, hair shaft; IHS, ichthyosis hypotrichosis syndrome; IHSC, ichthyosisehypotrichosisesclerosing cholangitis; ILC, ichthyosis linearis circumflexa; LI, lamellar ichthyosis; NS, Netherton syndrome; SC, stratum corneum; SG, stratum granulosum. *Also known as neonatal ichthyosis sclerosing cholangitis or ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC) syndrome. y Previously described leukocyte vacuoles are probably artifact and no longer diagnostic criteria.
Table X. Autosomal ichthyosis syndromes with prominent hair abnormalities and/or neurologic signs: summary of clinical and morphologic findings TTD TTD (not associated with CI) SLS Refsum syndrome (HMSN4) MEDNIK syndrome Mode of inheritance AR AR AR AR AR Onset At birth Childhood or late At birth Childhood or late At birth or within first weeks adulthood adulthood of life Initial clinical Collodion baby, CIE Xerosis, scaling, CI of mild type, focal Xerosis, scaling Erythematous rashes, similar presentation IV-like accentuation of hyperkeratosis on scalp and neck to EKV Disease course Cutaneous findings Postneonatal improvement in most cases, mild LI possible Progressive Mild to moderate Progressive Progressive Distribution of scaling Generalized Generalized Generalized but more severe on trunk and neck Generalized Generalized, Scaling type Fine, rarely lamellar Fine or light Velvetlike, fine scaling Fine or light EKV-like Scaling color White, gray White-gray Grayish White-gray ‘‘ Erythema Caused by photosensitivity Absent Yes Absent ‘‘ Palmoplantar Possible PPK Accentuated palmoplantar Yes Accentuated palmoplantar Not specifically involvement markings markings Hypohidrosis No No Yes Unusual ? Scalp abnormalities Hair fragility, Hair fragility, - Absent Not specifically variable variable Other skin findings Photosensitivity, - Pruritus - Nail thickening, mucous atopic dermatitis membrane affected Extracutaneous Growth and developmental delay, Spastic Development of night Congenital sensorineural involvement short stature, recurrent infections, cataracts paraplegia, mental blindness (retinitis deafness, peripheral retardation, ocular pigmentosa), anosmia, neuropathy, psychomotor involvement progressive deafness, and growth retardation, peripheral neuropathy, chronic diarrhea, mental cerebellar ataxia retardation Risk of death High risk of death in childhood because of infection Increased Without Life-threatening congenital treatment present diarrhea Skin ultrastructure Limited studies: perinuclear vacuoles in Not specific: abnormal LB, Mostly nonspecific: lipid Histology: hyperkeratosis cytoplasm of keratinocytes, irregularly cytoplasmic lipid vacuoles vacuoles in melanocytes, with hypergranulosis arranged bundles of tonofilaments (?) and lamellar/nonlamellar basal keratinocytes and phase separations layers dermal cells Continued JAM ACAD DERMATOL VOLUME 63, NUMBER 4 Oji et al 621
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