Alluhaibi Razan, Alkhayat Layan N, Aqeeli Wajd
Dermatology, King Abdulaziz Hospital, Makkah, SAU.
Dermatology, Umm Al Qura University, Makkah, SAU.
Cureus. 2021 Jan 7;13(1):e12562. doi: 10.7759/cureus.12562.
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant inherited rare type of vascular malformation encountered in a neonate and first described in 2003. It has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. In 2010, a German doctor proposed rhodoid nevus as a name for this type of capillary malformation; in ancient Greek, rhodoides means "rose-like" or "rose-colored." Accordingly, CM-AVM could also be called "rhodoid nevus syndrome." We report this case as its very challenging diagnosis with its further differentials and its association with thrombocytopenia.
毛细血管畸形 - 动静脉畸形（CM - AVM）是一种常染色体显性遗传的罕见血管畸形，于新生儿中出现，2003年首次被描述。据报道，它与RASA1基因的杂合突变有关，该基因编码RASp21蛋白。2010年，一位德国医生提议将类玫瑰痣作为这种毛细血管畸形的名称；在古希腊语中，rhodoides的意思是“玫瑰样”或“玫瑰色”。因此，CM - AVM也可被称为“类玫瑰痣综合征”。我们报告该病例，因其诊断极具挑战性，有进一步的鉴别诊断，且与血小板减少症有关。
