Mast cell activation in Dowling–Degos disease

Knuever, Jana; Persa, Oana‐Diana; Illerhaus, Anja; Ralser, Damian J.; Hartmann, Karin; Betz, Regina C.; Tantcheva‐Poór, Iliana

doi:10.1111/bjd.18221

Cited by 4 publications

(5 citation statements)

References 8 publications

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“…DDD (OMIM #179850) is a genetic dermatosis manifesting with discrete, light brown or black, acquired macules arranged in a reticular form [7,8]. 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].…”

Section: Discussionmentioning

confidence: 99%

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Dowling-Degos disease: An association with hidradenitis suppurativa

Mancy¹

2022

Our Dermatol Online

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Dowling-Degos disease is one of the genodermatoses presenting with acquired reticulate pigmentation of the flexures, black-dot papules, and pitted scars. Numerous associated conditions and multiple variants of the disease have been reported in the literature. Several gene mutations play a role in the pathogenesis of the disease giving rise to multiple phenotypic expressions. Herein, we discuss a case in three generations of a family affected with the disease and shed light on the associations and various expressions of the disease.

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Section: Discussionmentioning

confidence: 99%

“…DDD results from mutations of more than one gene [3]. Such mutations affect keratin 5 (KRT5) and the POFUT1, POGLUT1, and PSENEN genes [4,9,14]. The PSENEN gene is linked to DDD associated with HS [14].…”

Section: Discussionmentioning

confidence: 99%

Dowling-Degos disease: An association with hidradenitis suppurativa

Mancy¹

2022

Our Dermatol Online

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“…In addition, mast cells may be found in biopsy specimens of DDD. It has been reported that the number of tryptase‐positive mast cells are significantly higher in DDD specimens compared to normal skin, which may explain why some patients experience pruritus 35 . However, given that not all patients with DDD experience pruritus, the exact role that mast cells play in the pathogenesis of this disease is unclear.…”

Section: Histopathologymentioning

confidence: 99%

Dowling‐Degos disease: a review

2020

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Dowling‐Degos disease is a rare autosomal dominant genodermatosis. It is characterized by acquired reticulate hyperpigmentation over the flexures, comedone‐like follicular papules, and pitted perioral scars that usually develop during adulthood. Mutations in genes affecting melanosome transfer, and melanocyte and keratinocyte differentiation have been implicated in the pathogenesis of this disease. These genes include KRT5, POFUT1, POGLUT1 and, most recently, PSENEN. Dowling‐Degos disease can be found in isolation or with other associated findings, most notably hidradenitis suppurativa. This condition belongs to a spectrum of conditions that all result in reticulate hyperpigmentation that at times are hard to distinguish from each other. The most closely linked entity is Galli‐Galli, which is clinically indistinguishable from Dowling‐Degos disease and can only be distinguished by the presence of acantholysis on microscopy. Unfortunately, Dowling‐Degos disease is generally progressive and recalcitrant to treatment.

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“…For example, patients with KRT5 variants usually develop lesions at intertriginous areas, whereas patients with POGLUT1 variants often show affected extremities and may be accompanied by itching. 3,5 Patients with POFUT1 variants may exhibit a generalised subtype associated with simultaneous hypopigmentation and hyperpigmentation. 2,6 Patients with PSE-NEN variants usually experience acne inversa or hidradenitis suppurativa complicated with Dowling-Degos disease.…”

Section: Introductionmentioning

confidence: 99%

“…Several genes have been reported associated with this disease, 1,2,3,4 and considerable phenotypic heterogeneity is recognised. For example, patients with KRT5 variants usually develop lesions at intertriginous areas, whereas patients with POGLUT1 variants often show affected extremities and may be accompanied by itching 3,5 . Patients with POFUT1 variants may exhibit a generalised subtype associated with simultaneous hypopigmentation and hyperpigmentation 2,6 .…”

Section: Introductionmentioning

confidence: 99%

Scrotal Dowling–Degos disease caused by a novel frameshift variant in gamma‐secretase subunit presenile enhancer gene

Ren

Zeng

2020

Aust J Dermatology

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We reported a Chinese pedigree with scrotal Dowling-Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. No pain or pruritus were noticed, and no other skin folds were involved. Skin histopathology showed characteristic features of Dowling-Degos disease. A heterozygous PSENEN frameshift variant c.292delC(p.L98Wfs*47) was identified in affected cases. The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser. The p.L98 and adjacent amino acids are highly conserved among species. Our cases expand the phenotypic and genotypic spectrum of PSENEN-related Dowling-Degos disease.

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Mast cell activation in Dowling–Degos disease

Cited by 4 publications

References 8 publications

Dowling-Degos disease: An association with hidradenitis suppurativa

Dowling-Degos disease: An association with hidradenitis suppurativa

Dowling‐Degos disease: a review

Scrotal Dowling–Degos disease caused by a novel frameshift variant in gamma‐secretase subunit presenile enhancer gene

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