Doença de Dowling-Degos: apresentação clínica e histopatológica clássica

Abstract

Dowling-Degos disease (DDD) is a rare genetic disease of the skin (reticulate pigmented anomaly), clinically characterized by flexural brown pigmented reticulate macules, comedo-like papules on the back, neck and pitted perioral or facial scars. We present the case of a 51 year-old man with macrocomedo-like lesions, pitted scars, cysts, hyperpigmented macules in his back, chest, axillae, neck, groin and face. The patient reported having two children, three brothers and a father with a similar condition. The histopathology of the skin biopsies was very characteristic of Dowling-Degos disease, showing dilated follicular, fingerlike projections called rete ridges (dermal pegs), with thinning of the suprapapillary plates, resulting in an "antler-like" pattern and increased pigmentation of the basal layer. Keywords: Hyperpigmentation; Keratin-5; Skin diseases, genetic Resumo: A doença de Dowling-Degos é uma genodermatose rara que consiste numa desordem pigmentar reticulada. Caracteriza-se pela presença de máculas hiperpigmentadas nas regiões flexurais com distribuição em rede; lesões tipo comedão no dorso e na região cervical; e cicatrizes cribriformes na face, particularmente periorais. Apresentamos um caso de um paciente de 51 anos, masculino, com lesões tipo macrocomedões, cicatrizes cribriformes, cistos e máculas hipercrômicas no dorso, tórax anterior, axilas, pescoço, região genital e face. Relatava ter dois filhos, três irmãos e o pai com quadro semelhante. As biópsias de pele foram características da doença de Dowling-Degos, mostrando dilatação folicular, epiderme digitiforme, com áreas de aspecto de "chifre de veado" e focos de hiperpigmentação da camada basal.

Expanding Phenotypic Spectrum of Familial Comedones

“…From a histological point of view, Dowling-Degos disease is an important differential diagnosis [11]. However, the absence of reticulate pigmentation in the flexural area in our patients would exclude this diagnosis.…”

Familial Disseminated Comedones without Dyskeratosis: Report of an Affected Family and Review of the Literature

“…The lack of other risk factors (smoking and obesity), the sparing of only the buttocks and the absence of inflammation in most other affected family members are unusual for the diagnosis of hidradenitis suppurativa (acne inversa) [15]. Patients with Dowling-Degos disease are characterized by the typical reticulated hyper- and/or hypopigmentation in the flexural regions [16], which were not seen in our patients. Further genetic studies on the reported POFUT1 mutations encoding protein O-fucosyltransferase 1 can further exclude the diagnosis [17].…”