A 9-year-old Taiwan Residents girl had an unusual combination of multiple lentigines clustered on her left face, 3 café-au-lait spots on her left arm and ipsilateral axillary freckling. Two Lisch nodules of the i...A 9-year-old Taiwan Residents girl had an unusual combination of multiple lentigines clustered on her left face, 3 café-au-lait spots on her left arm and ipsilateral axillary freckling. Two Lisch nodules of the iris were recognized in the left eye but none in the right eye, which is why we established a diagnosis of segmental neurofibromatosis 1. No family member had any sign of neurofibromatosis 1. Moreover, the patient had a large speckled lentiginous nevus involving the left side of her trunk, and her father showed a similar skin disorder on his left but-tock. These lesions were taken to be unrelated to the patient’s segmental neurofibromatosis 1. This case provides further evidence in favor of the concept that partial unilateral lentiginosis represents a mosaic manifestation of type 1 neurofibromatosis.展开更多
Bannayan- Riley- Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations inc...Bannayan- Riley- Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations include vascular malformations, lipomatosis, speckled lentiginosis of the penis or vulva, facial verrucae- like or acanthosis nigricans- like lesions, and multiple acrochordons of the neck, axilla, and groin. We present a case of Bannayan- Riley- Ruvalcaba syndromewith macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy. We also describe previously unreported findings, including peripheral neuropathy, punctate cystic changes in acral tubular bones, and enostosis of talus. Bannayan- Riley- Ruvalcaba syndrome needs recognition by dermatologists because affected patients may present with mucocutaneous and subcutaneous lesions that may simulate other dermatological disorders.展开更多
文摘A 9-year-old Taiwan Residents girl had an unusual combination of multiple lentigines clustered on her left face, 3 café-au-lait spots on her left arm and ipsilateral axillary freckling. Two Lisch nodules of the iris were recognized in the left eye but none in the right eye, which is why we established a diagnosis of segmental neurofibromatosis 1. No family member had any sign of neurofibromatosis 1. Moreover, the patient had a large speckled lentiginous nevus involving the left side of her trunk, and her father showed a similar skin disorder on his left but-tock. These lesions were taken to be unrelated to the patient’s segmental neurofibromatosis 1. This case provides further evidence in favor of the concept that partial unilateral lentiginosis represents a mosaic manifestation of type 1 neurofibromatosis.
文摘Bannayan- Riley- Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations include vascular malformations, lipomatosis, speckled lentiginosis of the penis or vulva, facial verrucae- like or acanthosis nigricans- like lesions, and multiple acrochordons of the neck, axilla, and groin. We present a case of Bannayan- Riley- Ruvalcaba syndromewith macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy. We also describe previously unreported findings, including peripheral neuropathy, punctate cystic changes in acral tubular bones, and enostosis of talus. Bannayan- Riley- Ruvalcaba syndrome needs recognition by dermatologists because affected patients may present with mucocutaneous and subcutaneous lesions that may simulate other dermatological disorders.
