Persistent Generalized Cutis Marmorata Telangiectatica Congenita with Venectasia

Dear Editor,

Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare vascular skin abnormality. It was recognized for the first time in 1922 by Von Lohuizen, and only 300 cases have been described till date.^[1] It is a benign angiomatous abnormality usually seen at birth. The skin lesions are asymmetrical, localized, or generalized red or purple reticulated and anastomosed macules. These skin lesions may be associated with ulceration or atrophy with age progression.^[2]

Most of the represented literature cases are seen in children and had a resolution of marmoratic telangiectasias with age progression. Our patient presented with the persistence of characteristic generalized CMTC lesions persisting till adulthood.

A 24-year-old male presented with multiple reddish and bluish mesh-like skin lesions all over the body. Lesions were persistent since birth and unaffected by exposure to a cold environment. Phlebectasia was noted on the left lower leg. History of spontaneous ulcerations over few lesions, which resolved with atrophy. There was no history of macrocephaly, obvious skeleton defects or neurological complaints at birth, or any associated systemic complaints.

Physical examination revealed fixed, purple, and reticulate patterned erythema over the trunk, bilateral upper and lower limbs, and atrophy of the overlying skin. The sites of previous ulcerations healed with atrophy. The patient also had a Becker’s Nevus, an accidental finding, on the left upper back with an underlying scarred lesion representing the earlier vascular changes of cutis marmorata [Figure 1]. Limb asymmetry was noted more on the left side [Figure 2]. Systemic examination did not reveal any abnormality. With the above history and examination, we came to a differential diagnosis of Cutis Marmorata Telangiectasia Congenita and Livedo Racemosa. The presence of pain, thromboembolic events and non-resolution of rash point to the underlying systemic involvement, which requires evaluation of various blood parameters to establish the diagnosis.

Figure 1: Multiple reddish and bluish mesh-like reticulate erythema and few atrophic scars on the back. Evidence of Becker’s nevus on the left side with underlying skin showing atrophy

Figure 2: Limb asymmetry noted. Left leg with phlebectasia seen

The complete hemogram and blood coagulation profile were normal with a negative ANA, anti dsDNA, and APLA antibody. Histopathological examination (40×) from the erythematous site revealed an increased number of dilated capillaries and veins (venous lakes) within the dermis extending up to subcutis [Figure 3] with sparse perivascular lymphocytic infiltration within the dermis.

Figure 3: Increased number of dilated capillaries and veins within the dermis, dilated veins, venous lakes, and superficial perivascular lymphohistiocytic infiltrate (H & E 40x)

Ultrasonography of the skin revealed a decrease in dermal and subcutaneous tissue thickness secondary to inflammation or infiltration with intact muscle fascia. On a scannogram of the lower limb, the left lower extremity was shorter than the right by 1.3 mm with no valgus or varus deformity. Ophthalmic examination was normal and Doppler study of bilateral upper and lower limbs were within standard limits.

CMTC is diagnosed clinically, typically at birth or in the early postnatal period, based on the pentad of cutis marmorata, telangiectasia, phlebectasia, ulceration, and gradual symptom improvement.^[1] The skin changes at birth are found in 95% of cases in most series of CMTC.^[2] It tends to fade in color with time, often within the first 2 years of life, which allows for an accurate retrospective diagnosis attributing to skin maturation.^[3] Also, these lesions are characterized by dark purple to red, reticulated vascular patterns intermixed with telangiectasia, and occasionally prominent veins. The lesions can be localized or generalized and usually present at birth. The localized variant is more common, affecting about 60% of children with the disease, while the generalized form is said to occur in about 40% of children with CMTC.^[4]

Asymmetry of the limbs is the most common associated finding with CMTC, an additional finding in our case.^[5] Other associated extracutaneous findings include the following: (1) skeletal anomalies such as syndactyly, tendinitis stenosis, and cleft palate; (2) Glaucoma; (3) other vascular anomalies such as port-wine stains, angiokeratomas, and hemangiomas; (4) neurological anomalies such as macrocephaly presenting as Macrocephaly-cutis marmorata telangiectasia congenita, a syndrome that also includes neonatal hypotonia, developmental delay, overgrowth, and connective-tissue defects.^[4]

Livedo Racemosa was another close differential considered.^[6] However, ANA, anti-dsDNA, APLA antibody, protein C, and protein S were all negative in our case.

Our patient presented with persisting CMTC in adulthood and a generalized distribution. Kienast and Hoeger proposed a set of criteria for the diagnosis of CMTC [Table 1].^[7] They have suggested that the presence of all three major criteria and two minor criteria are sufficient for diagnosis. However, the validity of these criteria has not been established, and the authors have suggested further investigation for this purpose.^[7] Our case also questions the features of the criteria—the absence of venectasia and fading of erythema within 2 years of birth, urges for more extensive studies.

Table 1: Kienast and Hoeger proposed diagnostic criteria for CMTC

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