Image 1-Slightly raised macular-papular eruption on the neck.


Image 2 -Contrast photograph

Image 3-Low power magnification showed variable epidermal hyperplasia.

Image 4-Higher magnification reveals follicular plugging associated with acantholysis.


Image 5-Acantholytic cells are predominately distributed within the stratum corneum, subcorneum, and stratum granulosa.


Image 6-Corp ronds and corp grains are noted.

Image 7-In rare foci, cornoid lamellae are noted.

Case Study

This is a 10 year old boy who was treated with topical steroids for presumed eczema. The lesions were asymptomatic but worsened with the topical treatment. The lesions were limited to the neck. The patient is in otherwise good health.

Diagnosis-
Darier's Disease

Comment:

Darier's disease is a genodermatoses. It classically involves the seborrheic areas of the face, scalp, and trunk. Patients occasionally present with nail dystrophy and other abnormalities. The skin biopsy shows characteristic findings of an acantholytic dermatosis with corp ronds and corp grains.

In most cases, the clinical and histopathologic findings are straightforward. In this case, both the clinical and histopathologic findings were a bit unusual. The clinical lesions lacked the typical appearance of brown, greasy warty papules but were instead flesh colored smooth papules. They were also localized to one side of the neck with no lesions on the hands or nails.

The histopathologic findings were interesting showing not only the classic acantholytic dyskeratosis with corp ronds and corp grains but also a cornoid lamella. Cornoid lamella are not specific for porokeratosis and may be seen in numerous conditions including as an incidental finding. However, the finding of the cornoid lamella in this case was interesting since it arose in the setting of a genodermatosis.

Linear or segmental clinical variants have been reported and these cases may be associated with genetic mosaicism of ATP2A2. Mutations in this latter gene have been implicated in the pathogenesis. The gene normally encodes for the calcium pump located in the sarcoplasmic/endoplasmic reticulum Ca2+-ATP isoform 2 protein (SERCA2).

Of interest in confirming the diagnosis, oral corticosteroids may worsen the disease. It is interesting that this patient's lesions worsened with topical steroid treatment.

This patient was presented to the University of California Irvine Dermatology Grand Rounds where a consensus diagnosis of Darier's disease was reached.

Case and Clinical Photos Submitted by:
Elizabeth Lener, M.D.
Ladera Dermatology

References:

The Doctor's Doctor-Darier's Disease