Familial Disseminated Comedones Without Dyskeratosis, A Rare Genodermatosis: A Case Report

Abstract

Background: Familial disseminated comedones without dyskeratosis (FDCWD) is a rare inherited genodermatosis characterized by widespread comedones, papulonodular lesions, and variable scarring. Only a few families with this condition have been reported worldwide, and its etiopathogenesis and underlying molecular mechanisms remain poorly understood.

Case Report: A 24-year-old man presented with multiple papulonodular lesions and comedones involving the face and trunk. The lesions initially appeared at the age of 20 years and progressively increased in number and extent. Cutaneous examination revealed multiple scattered comedones with blackish keratotic plugs, punctate depressions, skin coloured to hyperpigmented nodules with prominent follicular openings containing keratotic plugs, hyperkeratotic papules, hypertrophic and atrophic scars, and post-inflammatory hyperpigmented macules. The back showed extensive involvement. Systemic examination was unremarkable. Similar clinical features were present in seven affected individuals of both sexes across three successive generations, suggesting an autosomal dominant pattern of inheritance. Histopathological examination showed orthokeratotic hyperkeratosis, markedly dilated follicles containing keratin plugs, and an arborizing proliferation of basaloid cells surrounding the dilated follicles, without evidence of dyskeratosis. Genetic testing was not performed due to limited resources and financial constraints. Based on the clinical, histopathological, and familial findings, a diagnosis of familial disseminated comedones without dyskeratosis was made. The patient was started on oral isotretinoin at a dose of 0.5 mg/kg/day and followed up in the Dermatology Outpatient Department.

Conclusion: FDCWD is a rare genodermatosis with characteristic clinical and histopathological features. The presence of similar manifestations across three successive generations in this case supports an autosomal dominant pattern of inheritance. The limited number of reported families highlights the importance of documenting additional cases to improve understanding of the clinical and histopathological spectrum, inheritance pattern, and long-term progression of this rare disorder.

Keywords: Familial disseminated comedones; Genodermatosis; Comedones; Autosomal dominant inheritance; Without Dyskeratosis