Dowling-Degos disease, hidradenitis suppurativa and arthritis in mother and daughter

Hidradenitis suppurativa: A comprehensive review

“…21,96-103 DDD is a genetic syndrome characterized by acquired, reticulated, symmetrical pigmentary macules of the flexural areas. 98 One report details the presence of HS and DDD in a mother and daughter. The authors propose that this association may be caused by a defect in follicular keratinization.…”

“…The authors propose that this association may be caused by a defect in follicular keratinization. 98 The association of HS, spondyloarthropathy, and acne conglobata is well described. [104][105][106][107][108][109][110][111][112] This association is seen predominantly in African American males and equally affects the axial and appendicular joints.…”

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

“…This association (DDD‐HS) was first described by Weber et al . in 1990 and subsequently confirmed in numerous case reports …”

“…This association (DDD-HS) was first described by Weber et al in 1990 and subsequently confirmed in numerous case reports. [16][17][18][19][20][21][22][23][24][25][26] Recently, two reports suggested that DDD-HS may result from mutations in the PSENEN gene. 25,26 Here, we studied four additional patients who presented with clinical features consistent with both DDD and HS, who were found to carry a founder Notch-inhibiting mutation in PSENEN.…”

Follicular occlusion triad associated with reticulate pigmentary disorder: Is there a genetic linkage?

“…[12] A new triad has been described by Loo, et al . in the form of hidradenitis suppurativa, Dowling-Degos, and multiple epidermal cysts.…”