Differential Diagnosis
Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are congenital conditions; similar skin lesions occurring later in life are referred to as livedo reticularis or livedo racemosa (see A CMTC-like skin appearance seen later in life at the end of this section). The primary differential diagnosis for congenital isolated CMTC is physiologic cutis marmorata (CM). CM is a normal physiologic finding that is apparent at rest in a minority of newborns. CM consists of a homogeneous, fine, lacy, or reticular capillary change that worsens (or becomes apparent) with cold or emotion, completely (or nearly completely) resolves with warming, and usually fades by age four to six months. No ulcerations or skin atrophy are present. In contrast, while CMTC lesions often show changes with warming or strong emotion, the lesions do not rapidly resolve, regardless of the intervention. If complete or near-complete resolution occurs acutely with any intervention, the individual has physiologic CM, not CMTC. Syndromic CMTC refers to CMTC or CMTC-like lesions associated with a known syndrome . Some of these diagnoses have early-onset clinical and laboratory findings that rule out isolated and classic CMTC. For others, adhering to the diagnostic criteria proposed by minus the "absence of venectasia" criterion or using the diagnostic criteria described in should lead to correct identification of isolated or classic CMTC. Table 3. Syndromes of Known Genetic Cause in Which CMTC or CMTC-Like Lesions Are Present
Involved Genes /Chromosomes | Syndrome | Genetic Mechanism (MOI) | Key Features / Comment |
|---|
RBPJ | Adams-Oliver syndrome (OMIM PS100300) | Germline pathogenic variant(s) (AD, AR) | Should be suspected in any persons w/CMTC in combination w/aplasia cutis congenita of scalp, terminal transverse limb reduction defects, complex congenital heart disease, or dilated, tortuous vein(s) on scalp BRD4 HDAC8 NIPBL RAD21 SMC1A SMC3 |
Cornelia de Lange syndrome | Germline pathogenic variant (AD, XL)1 | Cutis marmorata that is much more prominent than expected is persistent (60% of affected persons); also assoc w/synophrys, growth failure, feeding difficulties, limb deformity, ID CBS | — |
MTHFR | Homocystinuria (See Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria due to MTHFR Deficiency.) | Germline pathogenic variants (AR) | Cutis marmorata that is much more prominent than expected persistent; also assoc w/tall stature, ectopia lentis, DD |
RASA1 | RASA1-related Parkes Weber syndrome (See Capillary Malformation-Arteriovenous Malformation Syndrome.) | Germline pathogenic variant (AD) | Capillary malformations (sometimes reticulate or lace-like) ± overgrowth |
POLE | IMAGE-I syndrome (OMIM 618336)/ FILS syndrome (OMIM 615139) | Germline pathogenic variants (AR) | CMTC-like lesions (often present at birth), IUGR, s... |
Source: GeneReviews — "Isolated and Classic Cutis Marmorata Telangiectatica Congenita"
