A Case of Reed's Syndrome: An Underdiagnosed Tumor Disorder

Abstract

Cutaneous leiomyomas are uncommon, benign smooth muscle tumors originating from the arrector pili muscle of the hair follicle that are frequently unrecognized and underdiagnosed by clinicians. They sometimes coexist with common uterine fibroids in an inherited disorder named multiple cutaneous and uterine leiomyomatosis, also referred to as Reed's syndrome. We report a case of Reed's syndrome in a young woman who had been misdiagnosed for many years.

Nifedipina Auxiliando No Controle Da Dor Em Paciente Com Piloleiomiomas Múltiplos

“…[2][3][4] É descrita a coexistência de piloleiomiomas cutâneos e leiomiomas uterinos, entidade clínica conhecida como síndrome de Reed, com padrão autossômico dominante decorrente de uma mutação no gene que codifica a enzima fumarato hidratase. 8 Um subconjunto desses pacientes é predisposto a desenvolver carcinoma renal medular tipo II, comumente associado à eritrocitose, que parece ser secundária à atividade eritropoética tumoral. 3,6,7 Esse carcinoma geralmente segue um curso agressivo com metástase precoce, mesmo quando menor que 1 cm.…”

“…3,6,7 Esse carcinoma geralmente segue um curso agressivo com metástase precoce, mesmo quando menor que 1 cm. 8,9 Os angioleiomiomas em geral acometem pacientes do sexo feminino entre 40-60 anos, apresentando-se como nódulos solitários, bem definidos e da cor da pele. Costumam ser profundos, menores que 4 cm e ocorrem predominantemente em membro inferior.…”

Papules on the arms and renal cell carcinoma

“…Patients with HLRCC syndrome develop uterine myomas at a mean age of 20–35 versus 35–44 in the general population, with approximately 50% of affected women requiring hysterectomy by 30 years of age . More importantly, individuals with HLRCC syndrome have an increased propensity for the development of type II papillary renal cell carcinoma, a very aggressive form of cancer that tends to be asymptomatic until advanced, occurring in 1–30% of affected patients …”

“…Good results have been reported with cryotherapy, electrocoagulation, carbon dioxide laser ablation and, recently, botulinum toxin. Other pharmaceutical drugs such as nitroglycerin or gabapentin have limited effectiveness …”

Reed's syndrome - A rare case of multiple cutaneous and uterine leiomyomatosis with renal cyst

“…Cutaneous leiomyomas are the principal dermatological manifestations of Reed's syndrome. [5] Piloleiomyomas are the most common type of cutaneous leiomyomas which appear as skin coloured to pink-brown, asymptomatic to tender papules or nodules of size approximately 0.2cm–2cm. [5] Almost 90% of the cutaneous lesions are painful with cold, pressure, and stress being the triggering factors for pain.…”