Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature

Abstract

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. [<i>Indian J Dermatol Venereol Leprol</i>. 2013 Nov–Dec;79(6):802–4]. Follicular DDD differs from other variants because of its notable comedone-like hyperkeratotic hyperpigmented papules and a distinct histopathology which demonstrates pigmented filiform and branching rete pegs originating at the follicular infundibulum with many epidermal horn cysts while the interfollicular epidermis is essentially normal. Hereby, we present a case of follicular DDD with hidradenitis suppurativa (HS). A 37-year-old Thai man presented with slowly progressive hyperpigmented comedone-like papules on the face, neck, axillae, upper trunk, and buttocks with perioral pitted scars. Punch biopsy from a comedonal lesion on his back was consistent with follicular DDD. He also had recurrent painful nodules and abscess on the back, groin, and buttock which matched the clinical criteria for the diagnosis of HS. To date, a paucity of concurrent DDD with HS has been reported. Recent genetic studies speculate a shared pathophysiologic mechanism of DDD and HS.

Follicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review

“…Following their study, few of the authors have published and documented the same type of clinical presentation and histological changes in follicular DDD supporting and adding more value to their findings [ 4 - 9 ].…”

“…The usual presentation of the non-follicular type of hyperpigmentation of flexures seen in classical DDD is characteristically absent in follicular DDD [ 3 ]. To the best of our knowledge, only 13 cases (including our case) have been reported in the English literature till now [ 3 - 9 ]. Hence, we write this case to highlight the typical clinical and histopathologic presentation of follicular DDD.…”

About a Rare Association Between Vulvar Dowling Degos Disease and HS

“…Inhibition of the gamma secretase complex is thus responsible for abnormalities in the Notch signalling pathway leading to abnormal pigmentation as well as epidermal hyperkeratosis and follicular occlusion which may explain the association between DDD and HS in genetically predetermined patients. [9][10][11] HS can arise as an isolated condition, in a syndromic form or in association with DDD. There is a high proportion of pathogenic genetic variants, responsible for HS.…”

Disseminated papular variant of Dowling‐Degos disease: Histopathological features in POGLUT1 mutation

“…POGLUT-1 and POFUT-1 are regulators of the NOTCH signaling pathway that is associated with hidradenitis suppurativa [8,11,12].…”