Atypical cases of Dowling-Degos disease

Abstract

Dowling–Degos disease (DDD) is a rare autosomal dominant condition characterized by multiple, small, round pigmented macules usually arranged in reticular pattern, chiefly distributed in axillae and groins. Here we are reporting three atypical cases of DDD in a family. They had hypopigmented macules with typical features of DDD indicating generalized DDD. Histopathology confirmed the diagnosis. We present these three cases to stress the existence of generalized DDD phenotype in the Indian population.

Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring

“…Histological examination allowed the diagnosis to be made. Phenotypic variants of DDD have been reported, such as a folliculocentric variant, a vesicular variant, and a variant with prominent hypopigmented macules [1, 2, 3]. The coexistence of various dermatological conditions, including hidradenitis suppurativa, has also been well described [4].…”

“…Secondary features of the disease include pitted facial and perioral scars and comedo-like lesions [2]. DDD exists within a spectrum of related conditions presenting with reticulated pigmentation, including Galli-Galli and Kitamura diseases [3]. The histology of this group of conditions is considered diagnostic [1].…”

Dowling-Degos disease: An association with hidradenitis suppurativa

“…It usually appears first in the intertriginous areas, especially the axillae and groin, then progresses slowly [9]. In most reported cases, the involvement is of the face with acneiform pitted scars, usually located around the mouth [2,10,11]. In this case, most of the face was involved, the nose, paranasal areas, nasal bridge, forehead, and cheeks, while the perioral areas were spared.…”

“…Dowling-Degos disease (DDD), also termed reticular pigmented anomaly of the flexures, is a rare genetic disease with an autosomal dominant mode of inheritance with different phenotypic expressions [1]. It usually presents after puberty with reticular pigmentation of the flexures, particularly the axillae, groin, and submammary folds, blackhead comedo-like papules, and perioral, acneiform, pit-like scars [2]. DDD results from a mutation in more than one gene [3].…”

Comedonal Lesions on the Trunk and Proximal Extremities: Answer

“…They tend to have a reticular pattern and may be itchy. [4][5][6] Other associated features include comedo-like papules, acneiform pitted scars mainly in perioral location, chloracne-like lesions, epidermoid/trichilemmal cysts, seborrheic keratoses, and rosacea-like lesions (Haber syndrome). 7,8 The histologic findings in DDD are distinctive and characteristic.…”