Background
The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder and presents as a bullous disease of the newborn followed by an ichthyotic skin disorder throughout life. Clinical epidermolytic hyperkeratosis (cEHK) has characteristic histopathologic findings. Mosaic cEHK, which occurs without a family history, is a sporadic condition that clinically resembles epidermal nevi but demonstrates histopathologic findings similar to the generalized disorder; when a post zygotic mutation involves the germ line, the disease can occur in subsequent generations as generalized cEHK. Ichthyosis Bullosa of Siemens (IBS) is similar histopathogically, but clinically distinct from generalized cEHK, presenting with more superficial bullae.
Objectives
It is well established that the clinical diagnoses generalized cEHK, mosaic cEHK, and IBS have similar histopathologic findings of epidermolysis with hyperkeratosis. We sought to characterize a) the spectrum of histopathologic features and b) to assess whether there were histopathologic differences between these clinically distinct disorders.
Methods
One hundred seventeen skin biopsy slides from the National Registry for Ichthyosis and Related Skin Disorders were reviewed blinded to clinical information. All slides were systematically evaluated for a variety of features including differences in the pattern of the epidermolysis and hyperkeratosis. Clinical predictions of whether the biopsy was obtained from patients with generalized cEHK, mosaic cEHK, or IBS were made based on the histologic pattern of the epidermolysis and hyperkeratosis.
Results
Eighteen of the one hundred seventeen slides revealed features sufficient to make a histologic diagnosis of epidermolytic hyperkeratosis (hEHK). One additional slide, for which a definitive histologic diagnosis was not possible, had features of both hEHK and acantholytic dyskeratosis. Two distinct patterns of the histopathologic changes were observed within the eighteen slides diagnostic of hEHK, a) continuous involvement of the entire horizontal epidermis and b) focal involvement revealing skip areas of normal appearing epidermis along the horizontal epidermis. Upon clinical correlation, all twelve of the slides with continuous involvement were from patients with generalized cEHK. One slide was from acral skin and had continuous involvement. This was from a patient with Vorner’s palmoplantar keratoderma. Of the remaining five slides with focal involvement, two patterns were observed; focal involvement of both the granular and spinous layers and focal involvement of only the granular layer. The three slides with focal involvement of the granular and spinous layer were from patients with mosaic cEHK. Of the two slides with focal involvement confined to the granular layer, one was from a patient with IBS and the other from a patient with generalized cEHK.
Limitation
The sample pool is biased by who was enrolled in the registry an...
Infantile digital fibromatosis is a benign proliferation of myofibroblasts with characteristic eosinophilic intracytoplasmic inclusion bodies. Clinically, patients present in the first several years of life with asymptomatic, smooth, flesh-colored nodules located on the dorsal or lateral aspect of the fingers or toes. The lesions have a tendency for spontaneous regression and recur over 60% of the time following excision. Observation is often recommended, while surgery is reserved for cases of rapid growth or functional impairment. We report three patients, ranging in age from 8 months to 8 years, with infantile digital fibromatosis. All three patients presented with nodules on the hands or feet and all shared histologic findings of spindle cells with characteristic inclusion bodies. Pathologic features ranged from a haphazard arrangement of spindle cells with few inclusion bodies and numerous lymphocytes to a well-organized arrangement of spindle cells with abundant inclusion bodies and rare lymphocytes. All three patients underwent excision for diagnosis or treatment of their tumors with two of the patients experiencing a recurrence.
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