Dowling–Degos disease: A case report of a follicular variant

Khalid Al Hawsawi; Rehab Aser; Zaker Khoj; Ghassan Barnawi; Waseem Alhawsawi

doi:10.4103/jdds.jdds_32_20

CASE REPORT

Year : 2021 | Volume : 25 | Issue : 1 | Page : 46-48

Dowling–Degos disease: A case report of a follicular variant

Khalid Al Hawsawi¹, Rehab Aser², Zaker Khoj³, Ghassan Barnawi⁴, Waseem Alhawsawi⁴
¹ Department of Dermatology, King Abdul Aziz Hospital, Makkah, Saudi Arabia
² College of Medicine, King Abdulaziz University, Makkah, Saudi Arabia
³ College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia
⁴ College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia

Date of Submission	26-May-2020
Date of Acceptance	02-Jul-2020
Date of Web Publication	04-May-2021

Correspondence Address:
Dr. Khalid Al Hawsawi
Department of Dermatology, King Abdul Aziz Hospital, Makkah House # 4148, AL-Takassosi District, Branch # 6134, Unit # 1, Makkah 24323
Saudi Arabia

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_32_20

Abstract

Dowling–Degos disease (DDD) is an uncommon autosomal dominant genodermatosis characterized by reticular hyperpigmentation in the intertriginous areas. Herein, we report a case of follicular DDD which is a very rare variant of DDD. A 45-year-old healthy male presented with 1-year-history of asymptomatic slowly progressive skin lesions in the axillae. Skin examination revealed multiple nonscaly pigmented follicular papules and macules in both axillae but more severe in the right side. No other skin lesions elsewhere in the body. Hair, nails, and mucus membrane were all normal. Skin biopsy showed follicular plugging with the presence of pigmented filiform rete ridges originating from the follicular epithelium. The patient was diagnosed as follicular DDD. The patient was reassured. Electrocautery treatment was used, which leads to a remarkable improvement of the lesions.

Keywords: Dowling–Degos disease, follicular Dowling–Degos disease, reticulate pigmentary disorders

How to cite this article:
Al Hawsawi K, Aser R, Khoj Z, Barnawi G, Alhawsawi W. Dowling–Degos disease: A case report of a follicular variant. J Dermatol Dermatol Surg 2021;25:46-8

How to cite this URL:
Al Hawsawi K, Aser R, Khoj Z, Barnawi G, Alhawsawi W. Dowling–Degos disease: A case report of a follicular variant. J Dermatol Dermatol Surg [serial online] 2021 [cited 2022 Aug 18];25:46-8. Available from: https://www.jddsjournal.org/text.asp?2021/25/1/46/315327

Introduction

Dowling–Degos disease (DDD) is a rare autosomal dominant genodermatosis with variable penetrance.^[1] It is due to loss-of-function mutation in the gene that encodes keratin 5. A form of DDD that shows nonflexural involvement can result from heterozygous loss-of-function mutations in POFUT1 and POGLUT1. The onset is usually during the adulthood in the third to fourth decade of life. It is more common in females with a ratio of 2:1.^[2] Affected individuals present with multiple pigmented macules +/− keratotic papules in a reticulated pattern in the flexural areas of the body such as the axilla, neck, submammary area, and groin. The reticulated pigmentation rarely affects the trunk and extremities. The lesions initially start in the axillae and then spread to other body areas. Other features of DDD include comedo-like papules on the trunk and pitted acneiform scars on the face, epidermoid cysts, and hidradenitis suppurativa.^[3] A rare variants of DDD include follicular DDD, vesicular DDD, generalized variant, Galli–Galli disease, and Haber's syndrome.^{[4],[5],[6],[7],[8]} The follicular variant of DDD is characterized by the presence of pigmented follicular papules or macules that histopathologically show pigmented filiform rete ridges originating from the follicular epithelium.^[4],[5] The vesicular DDD is characterized by the presence of classical features of DDD as well as the presence of pruritic erythematous papules and vesicles that histologically show suprabasal acantholysis.^[6] Galli–Galli disease is a reticulated pigmentation that histopathologically shows suprabasal acantholysis. Haber's syndrome is a constellation of DDD, rosacea-like eruptions on the face, and keratotic/verrucous papules on the body.^[4] Overlap of DDD with other reticulate pigmentary disorders such as reticulate acropigmentation of Kitamura, reticulate acropigmentation of Dohi, and dyschromatosis universalis hereditaria has been reported.^[7],[8]

Case Report

A 45-year-old male otherwise healthy, presented with a 1-year history of asymptomatic, slowly progressing skin lesions. The patient reported no similar lesions in family and no history of consanguinity. Skin examination revealed multiple nonscaly pigmented follicular papules and macules in both axillae but more severe in the right side [Figure 1]. No other skin lesions elsewhere in the body. Hair, nails, and mucus membrane were all normal. Skin biopsy showed follicular plugging with the presence of pigmented filiform rete ridges originating from the follicular epithelium [Figure 2]. The patient was diagnosed as follicular DDD. He was reassured. The skin lesions were removed by electrocautery that lead to a remarkable clearance of the lesions with no recurrence until the time of this report for 2 years [Figure 3].

Figure 1: Multiple nonscaly brownish follicular papules and macules in the right axilla

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Figure 2: Skin biopsy showing follicular plugging with the presence of pigmented filiform rete ridges originating from the follicular epithelium

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Figure 3: The right axilla showing the absence of the skin lesions after electrocautery treatment

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Discussion

DDD is an autosomal dominant genodermatosis characterized by progressive reticulate pigmentation in the body flexures. Unlike the classical presentation of DDD, our patient is male, and the onset of the disease was late “5^th decade of life.” The follicular variant of DDD is characterized clinically by the presence of pigmented follicular papules and macules that histopathologically show pigmented filiform rete ridges originating from the follicular epithelium.^[4],[5] Singh et al. and Mahajan et al. reported four patients with follicular DDD, all of them presented with pigmented follicular papules that were scattered on the trunk as well as the presence of other features of DDD.^[4],[5] Unlike the previous case reports of follicular DDD in the literatures, our patient presented with pigmented follicular papules that were so localized to the axillae with the absence of other features of DDD. The main clinical differential diagnosis in our case includes Fox–Fordyce disease, acanthosis nigricans, and Darier disease. However, the histopathology in our case was typical for follicular DDD. Fox–Fordyce disease is a disease of unknown cause characterized by the presence of very itchy, skin-colored follicular papules in the axillae.^[9]

The histopathological features of the classic reticulated pigmentation of DDD include basilar hyperpigmentation, filiform elongation of rete ridges, and thinning of the suprapapillary epidermis. In follicular DDD, these histopathological features are seen in the wall of dilated hair follicle. Additional histopathological features that have been reported in DDD include hyperkeratosis, dermal fibrosis along rete ridges, dermal melanophages, and perivascular lymphohistiocytic infiltrate.^[7],[8]

Topical treatment with hydroquinone, tretinoin, adapalene, and corticosteroids has all been used for the treatment of DDD with variable results. Successful management of DDD with erbium: YAG laser or combination of Q-switched Nd: YAG and fractional carbon dioxide laser has been reported.^[10] Our case showed remarkable improvement of the skin lesions with electrocautery treatment with no recurrence of the lesions until the time of this report for 2 years.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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