RESUMO
A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.
RESUMO
Cutis laxa is a rare disorder of the elastic tissue characterized by loosely hanging and folded skin giving a premature senile appearance, often with internal organ involvement. Recently, we experienced a case of cutis laxa in a neonate. The patient who presented with dyspnea and loose skin at birth was delivered by Cesarean section in our hospital. He was the third baby of his mother and his siblings had no problem including skin. Physical examination on admission revealed a dyspneic neonate with skin showing loose folds, wrinkles and sagging over the face, neck, trunk and thighs. He had no family history of skin disease suggestive of cutis laxa. Histopathologic study of the skin specimen showed widespread breakdown and decreased number of elastic fibers with granular degeneration, shortening, and fragmentation. He had been dependent on ventilatory support throughout his hospital course and finally succumbed to intractable pulmonary emphysema at the age of 220 days.