Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1

A case report of Dowling‐Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation‐related psoriasis

“…Interestingly, similar atypical presentations were previously reported in two Chinese families with DDD caused by heterozygous POFUT1 nonsense mutations. 3 Moreover, the onset of DDD usually occurs during adulthood, rather than childhood as in this patient. Whether the large exon deletion of POFUT1 is responsible for the atypical presentation and the early onset of DDD needs further research.…”

“…2 In a previous study, we showed that a subgroup of CSU patients with low IgE levels has a good response to ciclosporin. 3 However, data on the evolution of these patients is lacking.…”

“…8 Ciclosporin has shown to be effective in a small percentage of CSU patients. 3,9,10 A previous study showed that patients with a positive basophil histamine release assay (BHRA) respond completely and rapidly to ciclosporin. 10 Although we did not perform BHRA, our patients had biomarkers associated with this type IIb phenotype, and also responded quickly to the drug.…”

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

“…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. In this study, we reported a family of Dowling-Degos disease with only scrotum involvement.…”

“…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 PSENEN variants usually experience acne inversa or hidradenitis suppurativa complicated with Dowling–Degos disease.…”