Indian Dermatology Online Journal

: 2012  |  Volume : 3  |  Issue : 1  |  Page : 70--71

Cutis laxa with pulmonary artery stenosis

Krina B Patel, Ruchin Patel 
 Department of Dermatology, Smt. S. C. L. Hospital, Ahmedabad, Gujarat, India

Correspondence Address:
Krina B Patel
Department of Dermatology, Smt. S. C. L. Hospital, Saraspur, Ahmedabad, Gujarat

How to cite this article:
Patel KB, Patel R. Cutis laxa with pulmonary artery stenosis.Indian Dermatol Online J 2012;3:70-71

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Patel KB, Patel R. Cutis laxa with pulmonary artery stenosis. Indian Dermatol Online J [serial online] 2012 [cited 2022 Jan 27 ];3:70-71
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A 9-month-old female patient presented with cough and breathlessness of 1 week's duration. She was found to have loose, sagging skin all over the body since birth. Child was born of non-consanguinous marriage and was delivered full-term.. Her developmental milestones were normal and she had no past history of major illness.. At the time of presentation she had moderate respiratory distress with a respiratory rate of 38/min, a pulse rate of 132/min, and temperature of 100°F. On examination, apart from right upper zone crapitations, a diastolic murmur was heard.

The skin of the entire body was extremely loose, hanging in folds, soft and inelastic. The changes were remarkable on face, neck, and flexures. Drooping of corners of mouth and loose skin around eyes gave her "blood hound" facial appearance [Figure 1] and [Figure 2]. The lax skin could be easily pulled from underlying tissue and when released would return slowly to its initial position. No other apparent abnormality of nails, mucosa, or gentialia was evident. No cyanosis, edema, or purpura were observed. No hernia or palpable lymph nodes were present. Her motor and sensory reflexes were normal.{Figure 1}{Figure 2}

On investigation her total WBC count was 16,000/cmm with 84% neutrophils. Other investigations including ESR, liver function tests, and renal function tests were normal. The test for TORCH antibody did not show any elevated titre. X-ray chest showed right and left upper zone patchy opacity with normal heart shadow. X-ray skull, clavicle, and carpal bones were normal. USG abdomen did not show any abnormality. 2-D echocardiogram showed right pulmonary artery stenosis with normal valves suggesting acyanotic congenital heart defects. Skin biopsy was not done as clinical diagnosis was obvious and parents did not give consent for the biopsy.

Her pedigree chart was made which showed two distant relatives of the same generation affected with similar skin changes suggesting autosomal recessive (AR) inheritance [Figure 3]. No other details regarding any systemic abnormality in other affected family members could be obtained.{Figure 3}

Cutis laxa (CL) is an acquired or inherited skin disorder characterized by wrinkled, inelastic skin. Inborn errors of elastin synthesis and structural defects of extracellular matrix proteins lead to decreased elasticity and redundant, sagging skin in affected patients. [1]

The inherited forms of CL are rather uncommon. Autosomal dominant (AD), autosomal recessive (AR), and X-linked recessive (XRCL) forms of disorder are known. In the AD form skin and connective tissue symptoms manifest at birth or early childhood. Associated features include cardiac valve anomalies and hernias. Early emphysema may occur, but gastrointestinal symptoms are uncommon. X-linked CL present at birth with distinct facial features and severe systemic symptoms including failure to thrive due to malabsorption, urethral and bladder diverticulae, and congenital hydronephrosis. Various skeletal anomalies such as coxa valga, pelvic exostosis, kyphosis, etc and cardiovascular anomalies such as tortuous carotid arteries, orthostatic hypertension also occur. AR forms are the most severe of all. The clinical spectrum of ARCL is heterogenous with respect to both organ involvement and severity. ARCL I is a life-threatening disorder with cardiac, pulmonary, gastrointestinal, genitourinary, and vascular anomalies. ARCL II is a spectrum of clinical entities with variable severity of CL, abnormal growth, developmental delay, and skeletal abnormalities. The classical phenotype includes generalized loose, redundant skin with slow return on stretching. Wide fontenelles, frontal bossing, downward slanted palpebral fissures, reversed V eyebrows, and dental carries are characteristic. Inguinal hernia, pigeon chest, scoliosis, etc. are common findings. The wrinkled skin syndrome, the De Barsy syndrome, Cantu syndrome, etc. are phenotypic variants of AR form of CL. [2] All inherited forms of CL are very rare. Precise data on their exact incidence are unavailable. Fewer than 200 families with various inherited forms are reported. [2],[3]

Differential diagnoses include Ehlers-Danlos syndrome, pseudoxanthoma elasticum, leprechaunism, etc. Diagnosis of CL is suggested by finding loose skin which recoils only slowly after stretching may be confirmed by histology.

The diagnosis of a CL syndrome is based on clinical assessment of the typical skin features and the associated extracutaneous findings. In our patient, there was a history of similar problem in other family members of the same generation suggesting AR inheritance. She had no history of developmental delay or any joint laxity as described for Type II recessive CL; our patient probably suffered from the Type I recessive form. She had the characteristic cutaneous abnormalities described in all the varieties of CL. Additionally, she had stenosis of the right pulmonary artery. Cardiopulmonary abnormalities are common in Type I recessive CL and are the main factors to determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure caused by pulmonary disease have been commonly described. Pulmonary artery stenosis has been occasionally described in the literature in association with AR CL. [4],[5]

In conclusion, we report a case of CL with associated cardiac defects and AR inheritance. Cardiac conditions require continuous monitoring and specialized treatment. The diffuse elastic changes have devastating effects on patients and their relatives. Identification of associated systemic manifestations is essential at an early date to prevent further complications from life-threatening consequences. Genetic counseling for the affected family is essential. We continue to closely follow up the patient in view of development of other features of ARCL.


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