Congenital cutis laxa with rectal and uterovaginal prolapse

Abstract

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.

Congenital Uterovaginal Prolapse in a Newborn

“…Our case is also a patient with congenital uterovaginal prolapse which is associated with spinal bifida at the lumbosacral region. Prolonged breech presentation, birth trauma, congenital cutis laxa, and prematurity are also among the other risk factors related to the condition [ 5 , 11 ].…”

Cutis laxapresenting as recurrent ileus

“…ARCL-I is often associated with severe systemic complications, especially emphysema and diaphragmatic defects, arterial tortuosity and aneurysms, gastrointestinal (GI) and genitourinary complications [ 12 ]; ARCL-IIA patients present with more motor nervous system and cardiovascular abnormalities [ 11 ]; ARCL-IIB is characterized by skin abnormalities similar to AD [ 12 ]; X-linked recessive CL—also called occipital horn syndrome—is characterized by both skin and neurological findings [ 13 ]. GI manifestations reported in the literature are more common in autosomal recessive and X-linked recessive and include rectal prolapse, colonic diverticula and pyloric stenosis [ 14 , 15 ]. Due to the rarity of the disease, the exact incidence of GI manifestations is unknown.…”

Congenital uterovaginal prolapse present at birth

“…Congenital UVP is also seen in neonates with congenital cutis laxa. [5] This is a genetic disorder characterized by generalized loose and redundant skin with reduced elasticity. Inheritance can be autosomal dominant, autosomal recessive, or X-linked.…”

“…To the best of our knowledge, not more than 20 cases of neonatal UVP have been reported in English literature. [1234567891011] Utero-vaginal prolapse is the downward descent and protrusion of the uterus and vagina to the exterior via the introitus. It is as a result of weakness of the cardinal ligaments and uterosacral ligaments which provide support to the uterus.…”

“…Most reported neonatal UVP were either 3 rd degree or procidentia. [1234567891011] This is a report of a congenital UVP (3 rd degree) in a 12 h-old-child noticed at delivery.…”