Subject(s)
Hyperkeratosis, Epidermolytic/diagnosis , Paget Disease, Extramammary/diagnosis , Skin Neoplasms/diagnosis , Aged , Diagnosis, Differential , Humans , Hyperkeratosis, Epidermolytic/complications , Hyperkeratosis, Epidermolytic/surgery , Male , Paget Disease, Extramammary/complications , Paget Disease, Extramammary/surgery , Skin Neoplasms/complications , Skin Neoplasms/surgerySubject(s)
Hyperkeratosis, Epidermolytic/diagnosis , Nevus, Pigmented/diagnosis , Rickets/diagnosis , Skin Neoplasms/diagnosis , Child , Humans , Hyperkeratosis, Epidermolytic/complications , Hyperkeratosis, Epidermolytic/genetics , Male , Nevus, Pigmented/complications , Nevus, Pigmented/genetics , Rickets/complications , Rickets/genetics , Skin Neoplasms/complications , Skin Neoplasms/geneticsABSTRACT
A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis.
Subject(s)
Contracture/etiology , Hyperkeratosis, Epidermolytic/complications , Skin/pathology , Adolescent , Fingers/pathology , Humans , Hyperkeratosis, Epidermolytic/classification , Hyperkeratosis, Epidermolytic/pathology , Hypogonadism/etiology , Keratoderma, Palmoplantar/pathology , Male , MosaicismABSTRACT
A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has been reported in children with various types of ichthyosis like lamellar and X-linked types. We report this case of epidermolytic hyperkeratosis with rickets for its rarity.