Pediatric Surgery Department. Hospital Universitario de Navarra. Pamplona (Spain).
Cir Pediatr. 2024 Jan 1;37(1):33-36. doi: 10.54847/cp.2024.01.15.
Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterized by persistent reticular and violaceous erythema. We present two cases of CMTC.
The first case involved a 13-month-old male with a reticular violaceous macule on the left gluteal region and a brownish papule with Darier's sign on the inner malleolus of the left foot, which was biopsied, revealing > 15 mast cells per field, leading to a diagnosis of CMTC and solitary cutaneous mastocytoma. The second case involved a newborn with a characteristic CMTC lesion without other malformations at birth, who subsequently developed two cutaneous tumors consistent with infantile hemangiomas during follow-up.
CMTC is a benign condition. However, approximately 50% of cases exhibit associated anomalies. When CMTC is suspected, musculoskeletal, ophthalmological, and cutaneous malformations should be ruled out. To the best of our knowledge, this is the first report of CMTC associated with mastocytoma and one of the few cases associated with infantile hemangioma.
先天性大理石样皮肤毛细血管扩张症（CMTC）是一种罕见的毛细血管畸形，其特征为持续性网状和紫红色红斑。我们报告了两例 CMTC 病例。
第一个病例是一名 13 个月大的男性，左臀部有网状紫红色斑，左内踝有褐色丘疹伴 Darier 征，行活检显示>15 个肥大细胞/视野，诊断为 CMTC 和孤立性皮肤肥大细胞瘤。第二个病例是一名新生儿出生时即有典型的 CMTC 病变，无其他畸形，随后在随访中出现两个符合婴儿血管瘤的皮肤肿瘤。
CMTC 是一种良性疾病。然而，约 50%的病例存在相关畸形。当怀疑 CMTC 时，应排除骨骼肌肉、眼科和皮肤畸形。据我们所知，这是首例报告 CMTC 伴肥大细胞瘤的病例，也是少数伴婴儿血管瘤的病例之一。
