RESUMEN
Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools.
Asunto(s)
Epidermólisis Ampollosa Simple/genética , Queratina-14/genética , Queratina-15/genética , Simulación por Computador , Epidermólisis Ampollosa Simple/patología , Femenino , Dermatosis del Pie/genética , Úlcera del Pie/genética , Úlcera del Pie/patología , Dermatosis de la Mano/genética , Heterocigoto , Humanos , Persona de Mediana Edad , Mutación Missense , Enfermedades de la Uña/genética , FenotipoAsunto(s)
Epidermólisis Ampollosa Simple/metabolismo , Queratinocitos/citología , Queratinas/genética , Queratinas/metabolismo , Metilaminas/química , Citoesqueleto/metabolismo , Proteínas del Choque Térmico HSP40/metabolismo , Proteínas HSP70 de Choque Térmico/metabolismo , Calor , Humanos , Chaperonas Moleculares/metabolismo , MutaciónRESUMEN
BACKGROUND AND OBJECTIVE: Calciphylaxis is life threatening. It has traditionally been associated with end-stage renal disease and hyperparathyroidism but is increasingly common in other clinical contexts. The association of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome and calciphylaxis has been reported only in a few cases. This case is the first of patient survival in such widespread disease. METHODS AND RESULTS: A 42-year-old man with POEMS syndrome developed extensive calciphylaxis despite normal renal and parathyroid function. Rapid diagnosis, treatment, and supportive care contributed to full clinical resolution. CONCLUSION: This is the fifth case of POEMS syndrome associated with calciphylaxis. The observations from this report suggest that POEMS syndrome might be an independent risk factor for the development of calciphylaxis. This case underlines the importance of careful follow-up in patients with POEMS syndrome and prompt diagnosis and treatment of associated calciphylaxis.
Asunto(s)
Calcifilaxia/complicaciones , Síndrome POEMS/complicaciones , Adulto , Humanos , MasculinoRESUMEN
BACKGROUND: Acquired partial lipodystrophy is a rare disorder. An association with systemic lupus erythematosus has been reported. In these cases, an immunologic basis is suggested by the presence of C3 nephritic factor and hypocomplementemia. OBJECTIVE: The following report presents the case of a woman who developed a rapid loss of facial subcutaneous fat a few months after complete spontaneous resolution of cutaneous lesions of lupus. CONCLUSION: Absence of C3NeF in this case suggests that other immunological factors may be involved in the pathogenesis.
