Generalized epidermolytic hyperkeratosis in the child of a parent with nevus comedonicus

Abstract

Nevus comedonicus (NC) is rarely associated with the histopathologic changes of epidermolytic hyperkeratosis (EH). A parent with mild focal NC had a child with severe generalized EH. The histopathologic findings of skin biopsy specimens from parent and child showed the distinctive granular and spinous layer vacuoles and coarse keratohyaline granules of EH. This parent and child may be examples of the extremes in expression of an autosomal dominant trait.

Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis

“…If mutation involves gonadal cells, these patients may be at risk of having offspring with BIE. In accordance with this hypothesis, there have been a few reports of patients with linear epidermal nevi having children with generalized BIE 1,3–7 . The mother of our patient represents a clear case of systematized linear epidermal nevi.…”

“…There have been a few reports of patients with linear nevoid lesions who have had children with generalized BIE 1,3–7 . These cases are believed to represent somatic and gonadal mosaicism 8 .…”

Linear nevus comedonicus with epidermolytic hyperkeratosis

“…In EHK, a mutation in K1 or K10 interferes with the heterodimeric pairing and gives rise to the characteristic clumping of KIFs in suprabasal layers of the epidermis 14,15 . Although many authors have mentioned the finding of EHK in some lesions of NC, we have found only eight cases reported 3,16–19 …”

“…GEH is characterized by erythroderma and mechanical stress‐associated blistering at birth, followed by hyperkeratosis with increasing age. Lookingbill et al 17 reported a similar case of a parent with patchy NC with EHK distributed over the left posterior aspect of the neck and back, who had a child with severe GEH.…”

Epidermolytic Hyperkeratosis in an Epidermoid (Infundibular) Cyst

“…Acrosyringial epidermolytic papulosis neviformis/epidermolytic sweat duct nevus 11 Actinic keratosis 3,9,12 Basal cell carcinoma 3,13 Benign solid hidradenoma (intraepidermal eccrine sweat duct units) 9 Benign verrucous keratosis 1 Cutaneous horn 1 Dilated pore 14 Drug-Induced acne 15 Epidermolytic acanthoma 3 Granuloma annulare 1 Grover disease 16,17 Hair follicle 3 Hypertrophic scar 9 Inflammatory linear verrucous epidermal nevus 18 Intradermal, compound, or junctional nevi 9,19,20 Leukoplakia 21 Lichenoid amyloidosis 1 Nevi with architectural disorder 2,19,20,22 Nevus comedonicus [23][24][25][26] Normal oral mucosa 27 Nummular eczema (intraepidermal eccrine sweat duct units) 9 Pilar cyst 1 Progressive systemic sclerosis 28 Reactive erythema 2 Rosacea 29 Seborrheic keratosis 1,3 Squamous cell carcinoma 1,30 Tattoo reaction 3 affecting keratins 1, 2, 9, and 10. Mutation analysis was not performed for the tissue in this case.…”