|Year : 2014 | Volume
| Issue : 3 | Page : 195-196
Ranjan Modi, Pournima Patil, Veerappa A Kothiwale, Mahesh Kamate
Department of Internal Medicine, KLE Dr. Prabhakar Kore Hospital, Belgaum, Karnataka, India
|Date of Web Publication||19-Sep-2014|
Department of Internal Medicine, KLE Dr. Prabhakar Kore Hospital, Belgaum, Karnataka
Source of Support: None, Conflict of Interest: None
Cardiofaciocutaneous syndrome is a rare dysmorphic syndrome. There are over 100 individuals reported in the literature. It is estimated that there are perhaps 200-300 individuals world-wide. The diagnosis can be suspected by constellation of cutaneous, cardiac and facial features. Recognition of this syndrome is important in view of the future risk of malignancy and for genetic counseling. Hereby we report a case of 30-year-old female who presented with history of desquamation of skin since birth and history of a congenital heart disease detected during the first pregnancy. Intelligence quotient assessment revealed mild mental retardation two-dimensional echo revealed septum secundum atrial septal defect. The diagnosis was made by the presence of the cardiac, cutaneous and neurological condition.
Keywords: Cardiofaciocutaneous, cardiofaciocutaneous syndrome, dysmorphic syndromes
|How to cite this article:|
Modi R, Patil P, Kothiwale VA, Kamate M. Cardiofaciocutaneous syndrome. J Sci Soc 2014;41:195-6
| Introduction|| |
Cardiofaciocutaneous (CFC) syndrome is a rare dysmorphic syndrome. There are over 100 individuals reported in the literature. It is estimated that there are perhaps 200-300 individuals world-wide. The diagnosis can be suspected by constellation of cutaneous, cardiac and facial features. Recognition of this syndrome is important in view of the future risk of malignancy and for genetic counseling.
| Case report|| |
The present case report is about a 30-year-old female patient who presented with a history of desquamation of skin since birth and history of a congenital heart disease detected during the first pregnancy.
She was poorly built with short stature (141 cm) and body mass index of 17.6. She had a squint, nystagmus with depressed nasal bridge and low set ears [Figure 1]. Clubbing and digital contractures were seen in both upper and lower limbs [Figure 2]. Skin showed generalized desquamation with erythema, non-bullous and non-tender ichthyosis erythroderma.
|Figure 1: Squint, nystagmus with depressed nasal bridge, low set ears and high arched palate|
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|Figure 2: Clubbing and digital contractures in both upper and lower limbs|
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Cardiovascular examination revealed raised jugular venous pressure, signs of pulmonary hypertension and right ventricular hypertrophy. On auscultation a wide fixed split was heard in the pulmonary area with an ejection systolic murmur.
| Investigations|| |
In the patient ultrasonography abdomen, total white blood cell count, differential count and peripheral smear were normal. Intelligence quotient tests Wechsler Adult Performance Scale and Verbal Intellect Scale were used which revealed the value to be 70, mild mental retardation. X-ray chest showed cardiomegaly with enlarged right ventricle [Figure 3]. Two-dimensional echo revealed ostium secundum atrial septal defect [Figure 4].
|Figure 4: Two-dimensional echo revealed ostium secundum atrial septal defect|
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| Discussion|| |
CFC syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkertosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia has been reported in some individuals.  Recently, three different genes have been found to be associated with CFC syndrome (BRAF, MEK1, MEK2). Most individuals with CFC syndrome (87%) have a mutation in the BRAF gene and 13% have a mutation in MEK1/2.  Molecular genetic (deoxyribonucleic acid) testing for mutations in all of these genes is not available in India, hence molecular diagnosis could not be offered. At present, treatment ultimately depends on the unique characteristics of each individual. These can include heart surgery to repair a structural defe ct, medications and lotions for skin problems, eye surgeries or corrective lenses to improve vision.
| References|| |
|1.||1. Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, et al. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet A 2007;143: 1481-8. |
|2.||2. Schubbert S, Bollag G. Biochemical and functional characterization of germ like KRAS mutations. Mol Cell Biol 2007;27:7765-70 |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]