S Arundhathi, Rajagopal Poongodi, Gopinath Hima, Rupa Ramani Jami
Pathology, All India Institute of Medical Sciences, Mangalagiri, Guntur, IND.
Dermatology, All India Institute of Medical Sciences, Mangalagiri, Guntur, IND.
Cureus. 2022 Jun 19;14(6):e26078. doi: 10.7759/cureus.26078. eCollection 2022 Jun.
Dowling-Degos disease (DDD) is an uncommon autosomal dominant genodermatosis that resides in the spectrum of diseases presenting with reticulate pigmentation. This disease has varied phenotypic expressions, the classical presentation being reticular pigmentation of flexures involving the axilla, submammary folds, inguinal folds, and neck. Follicular DDD is a variant of DDD with a unique presentation of folliculocentric papules, macules, pits, and comedones associated with the characteristic histological findings of follicle-centered, pigmented, branching, antler horn-like rete ridges sparing the interfollicular epidermis. Due to the rarity and paucity of data about this entity, we describe this case of a 28-year-old female who presented with perioral pitted scars and multiple hyperpigmented folliculocentric comedo-like papules over the face, neck, cubital fossa, and upper trunk, unaccompanied by the typical non-follicular, reticulate flexural hyperpigmentation, which clinically posed a diagnostic challenge. The diagnosis was confirmed by histopathology. We intend to increase clinicians' cognizance with respect to the unique clinical and histopathologic presentation of follicular DDD. More genetic studies could bring more understanding of this complex spectrum.
Dowling-Degos病（DDD）是一种罕见的常染色体显性遗传性皮肤病，属于呈现网状色素沉着的疾病范畴。该病有多种表型表现，经典表现为累及腋窝、乳房下皱襞、腹股沟皱襞和颈部的屈侧网状色素沉着。毛囊性DDD是DDD的一种变异型，具有独特的表现，即以毛囊为中心的丘疹、斑疹、凹坑和粉刺，并伴有特征性的组织学表现，即毛囊中心性、色素沉着、分支状、鹿角样 rete 嵴，不累及毛囊间表皮。由于关于该疾病实体的罕见性和数据匮乏，我们描述了一名28岁女性的病例，该患者面部、颈部、肘窝和上躯干出现口周凹坑状瘢痕和多个色素沉着的毛囊中心性粉刺样丘疹，无典型的非毛囊性网状屈侧色素沉着，这在临床上构成了诊断挑战。诊断通过组织病理学得到证实。我们旨在提高临床医生对毛囊性DDD独特临床和组织病理学表现的认识。更多的遗传学研究可能会带来对这一复杂疾病范畴的更多理解。
