RESEARCH LETTER

Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies

Inès EL FEKIH¹, Sylvie FRAITAG², Paul KUENTZ^3,4, Amélie CARBONELLE-PUSCIAN⁵ and Olivia BOCCARA^1*

¹Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Paris University, Necker-Enfants Malades Hospital, Paris Centre University, Imagine Institute, Paris, France, ²Department of Pathology, Paris Centre University, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France, ³Université Marie et Louis Pasteur, CHU Besançon, FHU TRANSLAD, Oncobiologie Génétique Bioinformatique, , F-25000 Besançon, France, ⁴Université Bourgogne Europe, INSERM, CTM UMR 1231, Equipe GAD, , F-21000 Dijon, France, and ⁵Cypath Pathology Laboratory, Dermapath Network, Villeurbanne, France. ^*Email: olivia.boccara@aphp.fr

Key words: vascular malformation.

Key words: cutis marmorata.

 

 

Dear Editor,

Cutis marmorata telangiectatica congenita (CMTC) is defined as a rare congenital vascular anomaly characterized by a red or violaceous reticulated skin pattern often accompanied by telangiectasia and areas of cutaneous atrophy or ulceration. These lesions are most commonly seen on the limbs (1). Although the segmental distribution of lesions suggests an underlying cutaneous mosaicism, no recurrent pathogenic genetic variant has been identified to date. Histological features are not specific and resemble those of a capillary malformation. CMTC-type lesions have also been reported in several well-defined syndromic conditions, including megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (2), Sturge-Weber syndrome (SWS) (3) and Adams-Oliver syndrome (AOS) (4). Additionally, other vascular tumours and malformations – such as segmental infantile haemangioma (IH) and verrucous venous malformation (VVM) – can present with reticulated lesions that clinically mimic CMTC (5, 6). The cases reported here highlight that several well-known conditions may appear as CMTC-type lesions potentially leading to diagnostic confusion.

The first case involved a new-born boy who presented with dark purple, reticulated patches on the right forearm (Fig. 1a and b). Over time, the lesion lightened (Fig. 1c), but remained reticulated, with overlying round telangiectasias and areas of subcutaneous atrophy. He experienced 2 episodes of transient ulcerations: one during the 1st weeks of life and another at 2 years of age. Histological analysis performed after the 2nd ulceration showed a normal epidermis, an atrophic dermis with dilated capillaries and areas of lipomatous regression within the hypodermis. Numerous GLUT-1–positive capillary and venous vessels were observed in the hypodermis. Doppler ultrasound revealed no venous or arterial abnormalities. At 3 years of age, a slight discrepancy in arm circumference was noted, with the right arm measuring 1 cm less than the left. GLUT-1 positivity is seen in both IH and VVM, but VVM typically lacks skin atrophy or limb hypotrophy. No epidermal thickening was observed over a 14 year follow-up, and no somatic pathogenic variant was identified on a vascular panel including the main genes involved in vascular malformations. These findings supported a diagnosis of IH with minimal or arrested growth.

Fig. 1. Case 1. (A,B) Congenital reticulated violaceous ulcerated lesion of the right forearm in a newborn. (C) Evolution of the reticulated lesion, at age 2: fading of the violaceous appearance and reduction in the extent of the lesion but persistence of a recurrent ulceration. (D) Well-differentiated nonlobulated vessels throughout the dermis and subcutis with partial lipomatous regression (x5). (E) Glut1 immunohistochemistry: positivity of all the vessels.

The 2nd case involved a new-born boy presenting with a reticulated violaceous lesion on the left thigh, featuring central blackish crusts and an initially bullous appearance, which prompted a clinical suspicion of CMTC (Fig. 2a and b). Histopathological analysis revealed numerous mature blood vessels beneath an unremarkable epidermis, with dilated vessels in the papillary dermis and less well-defined lumina in the reticular dermis. The vessel walls were thin and lined by flattened or mildly swollen endothelial cells, and immunohistochemistry demonstrated GLUT-1 positivity (Fig. 2c and d). Unlike IH, this reticulated lesion was fully present at birth, showed no tendency to fade over time, and rapidly developed hyperkeratosis, consistent with a diagnosis of VVM. Although VVM is generally recognizable on clinical examination, its frequent reticulated pattern can be misleading for less experienced physicians. This diagnostic challenge is exemplified by Fujita et al. who reported a typical case of segmental VVM of the limb with a reticulated appearance that was initially misdiagnosed as CMTC (6).

Fig. 2. Case 2. (A,B): A congenital, papular, crusted, violaceous lesion with a stable evolution over time. (C): Thin-walled vessels with dilated luminae at the top; at the bottom, more infiltrative aspect with narrow luminae (× 10). (D) : Glut 1 immunochemistry positive on all vessels.

In cases of isolated segmental reticulated IH with minimal or arrested growth, misdiagnosis as CMTC can occur if histological confirmation is not obtained. When lesions involve the lower limbs, the presence of associated congenital anomalies – such as those seen in PELVIS, SACRAL or LUMBAR syndromes – may help guide the syndromic diagnosis (5). Limb hypotrophy, reported both in IH and in GNA11-related SWS with extensive limb involvement, further complicates clinical distinction. In this mosaic disorder, cutaneous lesions can range from reticulated to atrophic (1), and presentations limited to a single limb may be mistaken for CMTC in the absence of genetic testing. Likewise, localized forms of AOS due to cutaneous mosaicism may not be detected by standard vascular gene panels.

Overall, we present 2 vascular lesions initially considered CMTC on clinical examination that were subsequently identified as distinct vascular entities following clinic-pathological correlation. Many syndromic vascular disorders can present with segmental CMTC-type lesions that are clinically similar but driven by distinct pathogenic mechanisms suggesting that isolated CMTC may represent a minor manifestation of one of these disorders. A comparable paradigm has been proposed for inflammatory linear verrucous epidermal nevus (ILVEN), which encompasses multiple mosaic inflammatory epidermal disorders (7). Systematic histological and genetic evaluation of CMTC-type lesions is therefore useful to improve disease classification.

Joanne Le Borgne de Lavillandré, Pr Smail Hadj-Rabia.

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