Kallin syndrome associated with vitiligo

Abstract

Kallin syndrome (KS) is a variant of epidermolysis bullosa simplex (EBS), which, in addition to the classic features of EBS, also presents with deafness, alopecia, hypodontia and nail dystrophy. We report the case of a 17-year-old boy who presented to our clinic with trauma-induced skin blistering, alopecia, deafness, dental caries, nail dystrophy and vitiliginous areas. The skin blisters had been appearing since birth, and healed without scarring. The vitiliginous areas were unrelated to the sites of the blisters. Electron microscopy of the skin blisters was diagnostic of EBS, and the depigmented lesions were similar to those of vitiligo. An association of vitiligo with EBS has not been reported previously. Multiple genetic findings have confirmed a role for keratin in regulating skin pigmentation. Apoptosis of melanosome-bearing keratinocytes may participate in the reduction of melanin density and result in depigmentation. Further studies on the defective proteins in KS may clarify the mechanism underlying the association with vitiligo.

Nail involvement in patients with epidermolysis bullosa: A systematic review

“…In patients with EBS we confirmed already reported alterations 43,44 as well as novel ones like brown pigmentation and hypoplastic nails 7,12,38 . We found patients with EBS severe had anonychia and dystrophic nails more frequently, and all nail changes appeared before 2 years of age.…”

“…In patients with EBS we confirmed already reported alterations 43,44 as well as novel ones like brown pigmentation and hypoplastic nails. 7,12,38 We found patients with EBS severe had anonychia and dystrophic nails more frequently, and all nail changes appeared before 2 years of age. Even though the absence of nail abnormalities has commonly been used in the past to exclude a diagnosis of this subtype, 44 in this study half of patients with EBS had nail involvement and those with EBS severe subtypes had nail alterations before 2 years of age.…”

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1 ) 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 . Most were case reports and small case series ≤6 patients, except for two 27 , 41 that reported 18 and 8 patients, respectively.…”

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1) 7–41 . Most were case reports and small case series ≤6 patients, except for two 27,41 that reported 18 and 8 patients, respectively.…”