Cutis marmorata teleangiectatica congenita Q27.8

Van Lohuizen, 1922

Congenital, generalized or localized, often systematized (either formed along the dermatomal borders or following the Blaschko lines), reticular pattern of the skin caused by telangiectasia and phlebectasia. The dystrophy (differentiation from the passagere livedo reticularis of the newborn) can occur isolated on the skin or be accompanied by mesodermal or neuroectodermal anomalies. It is not uncommon for atrophy to be detected in the affected skin. Localized atrophy of the subcutaneous adipose tissue, the adjacent musculature and the bony skeleton have also been described (see also Adams-Oliver syndrome) and cardiac and neurological defects as well as ocular anomalies have been found in some children with CMTC (Shareef S et al. 2024).

The incidence of CMTC is not known; there are currently around 300 known cases. No gender-specific predilection for CMTC has been identified. Many studies indicate a predominance of females; however, the difference was not statistically significant (Shareef S et al. 2024).

The molecular cause of this congenital vascular nevus has not yet been identified. However, several studies have classified the cause of the disease as multifactorial. It can be assumed that the disease was previously confused with other congenital capillary malformations. In this respect, the older publications on this clinical picture should be treated with caution.

The pathogenesis of this disease is unclear and probably multifactorial. Most cases of CMTC are sporadic. An autosomal dominant mode of inheritance with incomplete penetrance and teratogens are considered to be the cause of the development of CMTC. Elevated maternal serum levels of human chorionic gonadotropin and fetal ascites have also been associated with this disease.

CMTC usually occurs at birth; however, some cases with delayed onset have been reported, with lesions developing three months to 2 years later. No gender preference!

CMTC is characterized by a dark purple to red reticular vascular pattern interspersed with telangiectasias and occasionally prominent veins. The lesions can be localized or generalized and usually appear at birth. The localized variant is considered more common and affects about 60% of affected children, while the generalized form occurs in about 40% of children with CMTC. In the localized form, it occurs unilaterally, segmentally with a sharp demarcation that does not cross the midline, and usually affects the lower limbs, followed by the trunk and face. In the generalized form of CMTC, the palms of the hands, soles of the feet and mucous membranes are usually spared, while the trunk, limbs, face and scalp are most commonly affected.

Integument: Asymmetrical, also segmentally distributed or systematized marbled skin with telangiectasia and phlebectasia; often conspicuously thin, translucent (atrophic) skin with distinct vein pattern.

Scattered spider nevi or prominent veins are rarer.

In adolescents and adults, there may be significant fatty tissue and muscle atrophy. However, hypertrophy of the limbs may also occur.

It is not uncommon for cutis marmorata teleangiectatica congenita to be combined with a melanocytic nevus or a nevus anemicus (see also pigmentary vascular phacomatosis). Other vascular anomalies are port wine stains, angiokeratomas and hemangiomas.

Extracutaneous manifestations: genitoanal anomalies, skeletal changes, cleft palate, lipomas, hypercalcemia, glaucoma, malformations such as hemiatrophy, hemihypertrophy of affected extremities, neuromuscular disorders. Occasional development of a progeria-likeaspect.

Other associated extracutaneous findings are:

• glaucoma
• neurological anomalies such as macrocephaly presented as megalencephaly-capillary malformation-polymicrogyria syndrome (syn: macrocephaly-cutis-marmorata-congenita syndrome), a syndrome that also includes neonatal hypotonia, developmental delay, overgrowth and connective tissue defects. The gene associated with MCAP, the PIK3CA gene (PIK3CA stands for: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), is a protein-coding gene located on chromosome 3q26.32.

The diagnosis of CMTC is clinical, as the histology is non-specific. Increased, partly lacunar dilated capillaries, venules in the dermis and subcutis. A sparse perivascular lymphocytic infiltration in the dermis may also be seen.

Livedo reticularis of the newborn (reactive, regressible in the first months of life)

Genuine diffuse phlebectasia

Acrodermatitis chronica atrophicans (not congenital, DD in adults presenting with symptoms for the first time; lack of serology, histology is diagnostic for chronic Lyme disease)

Livedo racemosa (not congenital, histology is diagnostic, further signs of systemic vasculitis); see below. Livedo syndromes.

Complete regression in 50% of cases in the first years of life. Some cases persist or develop progressively (atrophy of the skin, fatty tissue, muscles and/or skeletal system). To what extent these clinically different courses are genetically different is not yet known.

After Kienast and Höger the following major and minor criteria are listed:

• Major criteria: Congenital reticular erythema, no veinctasia, no reaction to warming.
• Minor criteria: healing over 2 years, telangiectasia, nevus flammeus elsewhere, ulceration, atrophy of the skin.

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