RESUMO
Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial.
Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Feminino , Humanos , Carcinoma de Células Renais/genética , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/cirurgia , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/cirurgia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Renais/genética , Fumarato Hidratase/genéticaAssuntos
Melanoma , Transtornos da Pigmentação , Neoplasias Cutâneas , Dermoscopia , Humanos , PigmentaçãoAssuntos
Antibacterianos/administração & dosagem , Desbridamento/métodos , Gangrena , Púrpura Fulminante , Biópsia/métodos , Coagulação Intravascular Disseminada , Diagnóstico Precoce , Feminino , Gangrena/etiologia , Gangrena/cirurgia , Humanos , Pessoa de Meia-Idade , Púrpura Fulminante/sangue , Púrpura Fulminante/diagnóstico , Púrpura Fulminante/fisiopatologia , Púrpura Fulminante/terapia , Úlcera Cutânea/etiologia , Úlcera Cutânea/patologia , Tempo para o TratamentoRESUMO
INTRODUCTION: Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. The objective of our study was to describe the clinical characteristics of a series of Indian patients presenting with this rare entity. MATERIALS AND METHODS: It was a record-based descriptive case series. RESULTS: A total of 11 patients with PPV (9 females, 2 males, age range: 7 days to 45 years; mean 11.6 years) were studied. Port wine stain was present in 10 (91%) patients and one patient (9%) had cutis marmorata telangiectatica congenita. Isolated nevi of Ota and Mongolian spots were seen in 4 (36%) patients each. Simultaneous presence of both Mongolian spots and nevus of Ota was present in 1 (9%) patient. The combination of Mongolian spots and bilateral palatal hyper-melanosis was noticed in 2 (18%) patients. Café au lait macule was present in one patient. Bilateral ocular melanosis was found in 3 (27%) patients. Unilateral ocular melanosis was noticed in 4 (36%) patients. Two patients (18%) had history of seizure disorder and intracranial vascular anomalies on MRI imaging. Two patients (18%) had features of Klippel-Trenaunay syndrome. According to the traditional classification, three patients had PPV type 2b, one patient had PPV type 5b, and seven patients had PPV type 2a. According to the Happle's classification, 10 patients had PPV of cesio flammea type, and one patient had PPV of cesio marmorata type. LIMITATIONS: We could not perform genetic study of the patients. CONCLUSION: Our findings emphasize the importance of detailed systemic evaluation including ocular examination and brain imaging in every patient of PPV.