We read with great interest Bitar et al.'s case series of 12 patients from two US centers with cutis marmorata telangiectatica congenita (CMTC) and leg length discrepancy (LLD) 1. CMTC is a rare congenital vascular anomaly with persistent telangiectasia in a reticulate erythema pattern, typically present at birth and often with atrophy, ulcerations, or erosions and underlying limb hypoplasia 2. Historically, the term CMTC has been used for a variety of conditions in which a reticulate capillary malformation is a part. This has led to the misnomer “macrocephaly-cutis marmorata telangiectatica congenita” 3 and possible inclusion of patients with PIK3CA-related overgrowth syndrome and diffuse capillary malformation with overgrowth and undergrowth, which are associated with pathogenic variants in PIK3CA and GNA11. Further clouding the picture are patients with mosaic AKT3 p.E17K variants who have cutaneous features that resemble CMTC but often have megalencephaly that clinically resembles megalencephaly-capillary malformation syndrome 4. Earlier literature has examined the relationship between CMTC and LLD 2. However, representative photos from reports have depicted pink-red reticulate stains that lack well-defined borders, atrophy, or obvious textural changes. Whether this is labeled as a reticulate CM or the newly described GNA11 CMTC variant 5, this morphology is quite distinct from the reticulated, well-demarcated violaceous plaques, with a coarse fixed livedo pattern and areas of skin atrophy and erosion, as depicted in this publication by Bitar et al. (in this issue). However, for clinical precision, it is important to tease apart the characteristics of patients that are more clinically homogeneous. To that end, we would like to commend and highlight the work done by Bitar et al., where they include patients that seem to meet the clinical phenotype of congenital, reticulated, well-demarcated dark blue, red-purple, or violaceous macules or plaques with a coarse fixed livedo pattern with contiguous areas of skin atrophy or ulceration, as proposed by Schuart et al. 5. At the very least, this study will help us risk stratify the patients with the classic CMTC phenotype and provide useful numbers on the high incidence of LLD in patients with lower extremity CMTC. Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.
Wang et al. (Thu,) studied this question.