|Year : 2018 | Volume
| Issue : 3 | Page : 274-276
Autosomal recessive cutis laxa type-1 with complex systemic manifestations
Shruti Dhanraj Chavan, Ashish Ramchandra Deshmukh, Aniruddha Dharnidhar Gulanikar, Shilpa Satyajeet Pathrikar, Iqbal Mohammad Tariq
Department of Dermatology, MGM Medical College and Hospital, Aurangabad, Maharashtra, India
|Date of Web Publication||28-Jun-2018|
Dr. Ashish Ramchandra Deshmukh
Department of Dermatology, MGM Medical College and Hospital, Aurangabad, Maharashtra
Source of Support: None, Conflict of Interest: None
Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 7-year-old boy, presented with loose, sagging skin chiefly over the face, extremities, and skin folds since birth with recurrent respiratory and systemic complaints. The patient had a characteristic senile bloodhound appearance. Chest X-ray findings included emphysema, bronchopneumonia, and pulmonary hypertension. Ultrasonographic examination showed cystitis and bladder diverticula. Two-dimensional echocardiography showed primary pulmonary hypertension. Histopathological examination with Verhoeff-Van-Gieson stain showed markedly reduced elastic fibers. Serum amino acids, copper, and ceruloplasmin were normal. About sixty cases of autosomal recessive cutis laxa type 1 (ARCL-1) have been reported in literature. There is no definitive treatment available at present, and symptomatic management is the mainstay of treatment. Differential diagnosis includes Ehlers–Danlos syndrome, congenital disorders of glycosylation syndrome, and pseudoxanthoma elasticum. We report this case of ARCL-1 for its rarity and complex systemic involvement.
Keywords: Autosomal recessive cutis laxa, cutis laxa, genodermatoses
|How to cite this article:|
Chavan SD, Deshmukh AR, Gulanikar AD, Pathrikar SS, Tariq IM. Autosomal recessive cutis laxa type-1 with complex systemic manifestations. Indian J Paediatr Dermatol 2018;19:274-6
|How to cite this URL:|
Chavan SD, Deshmukh AR, Gulanikar AD, Pathrikar SS, Tariq IM. Autosomal recessive cutis laxa type-1 with complex systemic manifestations. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Oct 30];19:274-6. Available from: https://www.ijpd.in/text.asp?2018/19/3/274/217484
| Introduction|| |
Cutis laxa (CL) is a rare connective tissue disorder with only over 200 cases reported so far. It is characterized by loose, sagging skin over the body. Both inherited and acquired forms are known. Inherited forms of CL may be autosomal dominant, autosomal recessive (AR), and X-linked. Here, we present a case of 7-year-old boy with AR type 1 CL with severe systemic manifestations.
| Case Report|| |
A 7-year-old boy presented with loose, sagging skin mainly over the face, extremities, and skin folds since birth. The patient had recurrent complaints of cough, fever, burning micturition, and difficulty in breathing. Cutaneous examination revealed loose and sagging skin mainly over face, distal extremities, neck, axilla, and inguinal folds [Figure 1] and [Figure 2]. Ptosis, low set, prominent ears, large forehead, beaked nose, small mouth, long philtrum, and hanging cheeks were present over the face, giving the child an aged appearance. Hair over scalp was sparse. Nail examination showed no abnormalities. The patient also had pectus excavatum with pot belly.
The child was born out of a second-degree consanguineous marriage. The antenatal period and labor were uneventful. The child weighed 3 kg at birth. The developmental milestones were not delayed. There was a history of similar findings in the child's elder sister who passed away at 1 year after birth due to associated respiratory complaints. The younger sister has no related complaints and is living a normal life. The complete blood count showed leukocytosis. Urine microscopy showed plenty pus cells. Liver function tests and kidney function tests were normal. X-ray examinations revealed no bone abnormalities. Chest X-ray findings included emphysema, bronchopneumonia, and dilated pulmonary arteries suggestive of pulmonary hypertension. Ultrasonographic examination showed cystitis and bladder diverticula. Two-dimensional echocardiography showed dilated right atrium and ventricle suggestive of primary pulmonary hypertension. Histopathologic examination of the skin biopsy specimen with H and E staining showed normal epidermis with basket weave stratum corneum and sparse perivascular and perifollicular infiltrate of lymphocytes. Verhoeff-Van Gieson stain, a special stain for elastic fibers, showed markedly reduced elastic fibers [Figure 3]. Screening for congenital disorders of glycosylation by transferrin isoelectric focusing was done to rule out carbohydrate deficient glycoprotein syndrome and was normal with normal pattern of transferrin subfractions. Chromosomal analysis showed normal karyotype. Serum amino acids were normal. Serum copper and serum ceruloplasmin were normal.
| Discussion|| |
Genaralized CL is also known as generalized elastolysis. The calculated prevalence is 1/1,000,000.
ADCL is a milder form and usually appears in childhood or early adulthood. It presents with characteristic facial features with loose skin and systemic involvement such as gastrointestinal diverticula, herniae, uterine prolapse, and aortic dilatations.,
Autosomal recessive cutis laxa (ARCL) is the most severe form of CL. ARCL-1 presents at birth with cutaneous manifestations affecting whole body. Systemic manifestations include pulmonary emphysema, gastrointestinal and bladder diverticula, arterial aneurysms, pulmonary artery stenosis, hernia, etc., and are severe and life-threatening. Child's developmental milestones and intelligence quotient are normal. FBLN5 and FBLN4/EFEMP2 genes are affected.
In ARCL-2, there is intrauterine growth restriction, skeletal involvement, and developmental delay. Loss of function mutations is present in ATP6V0A2, resulting in abnormal glycosylation.,,
ARCL-3 (de Barsy syndrome) presents with severe mental retardation, athetoid movements, and corneal opacities.
In X-linked form (occipital horn syndrome), bladder diverticula, inguinal hernias, slight skin laxity and hyperextensibility, joint laxity, coarse hair, and skeletal abnormalities are associated. Mutation in copper transporter gene ATP7A is seen, resulting in low-serum copper, and ceruloplasmin levels.,
Differential diagnosis includes Ehler's–Danlos syndrome in which there are hyperextensible joints with hyper mobility, but not lax skin. There is quick recoil of skin on stretching.,,
Pseudoxanthoma elasticum is characterized by fragmented and calcified elastic fibers. The face is spared, and the skin is yellow.,
The exact pathogenesis of CL is not known, but various hypothesis has been proposed such as immune mediated mechanism, altered copper metabolism, and excess elastase.,
In our case, the child had similar complaints in siblings, which is suggestive of AR inheritance. In our case, there was severe wide range of systemic involvement (pulmonary hypertension, emphysema, bronchopneumonia, chronic cystitis and bladder diverticula) which are life-threatening. Hence, continuous monitoring and active management for the associated complications were needed. Diagnosis of ARCL-1 was done on the basis of clinical features, extracutaneous findings, and histopathological findings with the exclusion of differential diagnosis. There is no effective treatment available for ARCL-1. Symptomatic management for the associated complications remains the mainstay of treatment. Genetic counseling of the affected family is essential. Due to financial constraints, genetic studies could not be performed in our case. Only about sixty cases have been reported in literature so far.
| Conclusion|| |
We report this case of ARCL-1 with complex systemic involvement for its rarity.
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]