|Year : 2020 | Volume
| Issue : 3 | Page : 212-214
Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia
Manish Jain1, Safa Patrick2, Sumit Kar2, Prachi Gawande1
1 Department of Pediatrics, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Maharashtra, India
2 Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Maharashtra, India
|Date of Submission||24-Nov-2019|
|Date of Decision||24-Dec-2019|
|Date of Acceptance||29-Feb-2020|
|Date of Web Publication||30-Jun-2020|
Dr. Sumit Kar
Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Sewagram - 442 102, Maharashtra
Source of Support: None, Conflict of Interest: None
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up to 3 months to 2 years of age. Hereby, we report a case of a 2-day-old infant with CMTC involving trunk with rarely reported congenital anomaly involving multiple system, i.e., musculoskeletal, cardiovascular, pulmonary, ophthalmic, excretory, oropharyngeal, and reproductive system.
Keywords: Ambiguous genitalia, cleft palate, cutis marmorata telangiectatica congenita, limb defects, polydactyly
|How to cite this article:|
Jain M, Patrick S, Kar S, Gawande P. Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia. Indian J Paediatr Dermatol 2020;21:212-4
|How to cite this URL:|
Jain M, Patrick S, Kar S, Gawande P. Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Jul 10];21:212-4. Available from: http://www.ijpd.in/text.asp?2020/21/3/212/288484
| Introduction|| |
Cutis marmorata telangiectatica congenita (CMTC) is uncommon, congenital, vascular malformation, a condition composed of capillary- and venous-sized vessels. It is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or limb. Typically, cutis marmorata is localized, is unilateral, does not cross the midline, and is sharply demarcated. The color of the lesion ranges from deep violet to red.
Many associated anomalies have been reported with CMTC. Most commonly reported are limb asymmetry and coexistence of other vascular birthmarks.
| Case Report|| |
A full-term female new born baby born to parents of nonconsanguineous marriage delivered normally at term with uncomplicated perinatal period admitted in the neonatal intensive care unit (NICU) of pediatric department. It was referred to the Department of Skin and VD with dry, fragile, wrinkled skin present all over the body and telangiectasia present only over the trunk. On cutaneous examination, dilated and tortuous superficial veins, i.e., telangiectasia involving the trunk and atrophy of skin with xerosis all over the body, was observed [Figure 1]. On further examination, it was observed that the baby had cleft lip, cleft palate with [Figure 2] limb asymmetry with ambiguous genitalia [Figure 3], [Figure 4], [Figure 5]. Abdomen and pelvic examination showed ambiguous genitalia [Figure 3] which on ultrasonography revealed the presence of uterus and left hydronephrosis. Karyotyping examination revealed normal karyotype, i.e., 46XX. A multidisciplinary care approach was followed and NICU care was given to this patient. Ophthalmological examination revealed bilateral congenital glaucoma. Orthopedic examination revealed right congenital talipes equinovarus (CTEV) with abnormal arrangement of the bones of hand and polydactyly in the right foot [Figure 4],[Figure 5]. The associated cardiac abnormality were diagnosed in echocardiography. The line 35 to 40 shows the 2D echo findings of the patient. Thus, a diagnosis of atypical CMTC with associated rare congenital anomalies was made.
|Figure 1: Cutis marmorata telangiectasia congenita over the trunk with cleft lip and cleft palate with congenital talipes equinovarus (a) with abnormal arrangement of the bones of the hand (b) and polydactyly in the foot (c) with ambiguous genitalia (d)|
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|Figure 3: Cutis marmorata telangiectasia congenita over the trunk with ambiguous genitalia|
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|Figure 4: Polydactyly in the right foot with right congenital talipes equinovarus |
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| Discussion|| |
CMTC is an uncommon, congenital, vascular malformation. The presence of reticular erythema is pathognomonic of CMTC. Chatterjee and Dey reported that erythema can be generalized or localized to a specific area or limb. Localized lesions are unilateral, are sharply demarcated, and do not cross the midline. However, in our case, reticular erythema was bilaterally present over the trunk. There is no sexual predilection. However, many studies reported that this condition affects girls more than boys, but their number is minute, and the difference is not statistically significant. In our case also, the patient was female.
The frequency of this disorder is not known; it may be more common than reported because it is usually a benign disorder, and most cases that are reported have associated vascular malformations, hypoplasia, or hyperplasia of the limbs. In our case, CMTC is associated with irremediable array of system involvementm rarely reported until now.
The pathogenesis of these disorders is not very clear, and the cause may be multifactorial. Most cases occur sporadically although rare cases occur in families. Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiologies. Some authors suggest that lethal gene hypothesis (i.e., the lethal dominant gene survived by means of mosaicism) best explains the patchy distribution of the lesion in many cases and its sporadic occurrence.
CMTC has been reported in association with fetal ascites and elevated maternal beta-human chorionic gonadotropin hormone. In our case, there was no fetal ascites and maternal beta-human chorionic gonadotropin hormone was within normal limits.
Garzon and Schweiger reported skeletal defects such as asymmetry of limbs, syndactyly, tendinitis stenosans, hip dysplasia, clubfoot, and cleft palate. In our case, the patient had cleft palate with cleft lip with CTEV with abnormal arrangement of the bones of the hand and polydactyly in the foot which has not been reported until now [Figure 1]a, [Figure 1]b, and [Figure 1]c. Cardiac defects have been rarely reported with CMTC, but our case had atrial septal defect causing left to right shunt with tricuspid regurgitation and pulmonary stenosis leading to pulmonary hypertension. Our case was a female with hydronephrosis with ambiguous genitalia [Figure 1]d which has not been reported until now.
Vascular anomalies, for example, Sturge- Weber syndrome More Details More Details, Klippel-Trenaunay-Weber syndrome, angiokeratomas, hemangiomas, and Mongolian spots have been associated with CMTC. The baby reported in this article had no such vascular abnormality. Garzon and Schweiger reported glaucoma as the most common association with facial lesions, but in our case, lesions were present only over trunk, but the patient had bilateral glaucoma. Other congenital anomalies associated with disease include micrognathia, triangular face, scaphoid scapulae, dystrophic teeth, high-arched palate, and short stature. Neurological defects that have been associated include neonatal hypotonia, meningioma, developmental delay, mental retardation, and seizures.
Hence, we report this case of genre of CMTC with multitudinous precarious congenital anomaly.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]