Aplasia Cutis Congenita, Nonsyndromic

Alternative Names

  • ACC
  • Congenital Defect of Skull and Scalp
  • Scalp Defect, Congenital
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

107600

Mode of Inheritance

Autosomal dominant

Gene Map Locus

10q11.21

Description

Aplasia Cutis Congenita (ACC) is a rare skin disorder seen in neonates. The disease is characterized by absence of certain skin layers. The most commonly affected region is the scalp. However, the trunk, arms, and/or legs may also be affected. The disease commonly presents as a solitary lesion, which may cover a large part of the site. The affected area is well-circumscribed, not inflamed, and covered with a thin, transparent membrane. The skin lesions are usually benign, but they may be associated with other underlying disorders. In severe cases, the scalp and the skull may be deficient, exposing the dura, whereas in other cases, the scalp, bone, and dura, all may be deficient, exposing the brain.

Genetic factors, teratogens, as well as compromised vasculature of the skin have been implicated in causing ACC. In many cases, the disease has been found to be caused due to the early rupture of amniotic membranes. Mild forms of the disease can be managed by gentle cleansing of affected areas along with the application of ointments to prevent drying out. More severe cases, like full thickness defects of the scalp may lead to mortality in 50% of the cases, as they may be prone to haemorrhages, infection, and sagittal sinus thrombosis. Surgical intervention is required in such cases.

Although there have been reports of familial occurrences of ACC, genetic etiology of disease is not fully understood. Both autosomal dominant and recessive modes of inheritance have been noticed in Aplasia Cutis. Studies have shown an association of the condition with BMS1 gene in a family with autosomal dominant form of ACC.

Epidemiology in the Arab World

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Other Reports

Kuwait

A survey performed by Bastaki et al. (1992) between 1985 and 1989 reported the overall incidence of genodermatosis in Kuwait Maternity Hospital to be 0.26 per 1000 livebirths. More specifically, the incidence of cutaneous aplasia was 0.012 per 1000 livebirths in Kuwait during the over-mentioned period of five years.

[Bastaki L, Al-Awadi A, Naguib KK. Incidence of genodermatosis among the neonates in Kuwait Maternity Hospital: 1985 to 1989 survey report, Kuwait Medical Genetics Centre, 1992, Kuwait.]

Gang and Bajec (1994) reported a case of congenital cutis aplasia in which skin equivalent to 20% of the total body surface was lost. The affected area involved the trunk symmetrically on either side of the midline. The wound healed in six-weeks with medicated dressing.

[Gang RK, Bajec J. Aplasia cutis congenita. Kuwait Med J. 1994; 26(1):72-3.]

 

Oman

Ravi et al. (1995) described a male baby, born full term following an uneventful pregnancy and normal delivery, and with no neurological deficit. The subject was born with an oval skin defect and an underlying bony defect (one cm less than the skin defect) on the posterior parietal region to the right of the midline, with the superior sagittal sinus and interhemispheric grooves seen through the defect. However, no cerebrospinal fluid leek was observed. There was no associated congenital anomaly found on general examination. No abnormalities of the brain parenchyma or the ventricular system were detected on CT san. Surgical debridement and covering of the defect with a local transposition flap was done, but postoperatively, he developed generalized seizures (controlled by anticonvulsants), MRSA infection of the wound, and communicating hydrocephalus which was managed initially by an Ommaya reservoir, then with a shunt after resolution of the infection. After three months of hospitalization, he was discharged home in a good condition.

[Ravi RR, Lad SD, Mann KS, Seth RK. Aplasia cutis congenita. Oman Med J. 1995; 11(3):49-50.]

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, three children were born with aplasia cutis.

Qatar

Attalla and El-Sayed (1992) described a case of aplasia cutis congenita of the scalp with bony defect in a newborn treated by early excision and reconstruction. A versatile minor flap was employed to cover the resultant defect.

Selim et al. (1996) described the clinical features of aplasia cutis congenita in female from Qatar. She was born full term following a normal delivery with appropriate gestational age and weighed 3.2 Kg. She was admitted to the Paediatric Intensive Care Unit immediately after birth for ulceration of her skin. The infant was well with normal vital signs and no dysmorphic features. She had well demarcated granulated reddish ulcerations on chest wall, both upper limbs, both knees and chins. Mucous membranes were not affected and no bulla were seen. Scalp, face and feet were free. Investigations of CBC, serum electrolytes, blood biochemistry, immunoglobulin estimation, skull X-ray and ultrasonography of the brain and abdomen were done and all results were normal. Cytogenetic study showed a normal female karyotype 46XX with no chromosomal abnormality. Skin biobsy from the lesion of the right arm was taken for light and electron microscopic examinations. It showed an area of necrosis affecting full thickness of the epidermis including basal layer. This had resulted in ulceration with destruction of the basement membrane which can not be seen in the ulcer base even in the section stained with PAS. Basement membrane in normal skin adjacent to the ulcer was very thin. Granulation tissue was present in the dermis with fibroblasts and capillaries arranged perpendicular to the skin surface. Hair follicles were present in the biopsy. Some degree of spongiosis was evident. The infant had four healthy sisters, and her mother did not suffer from any infections or take any drugs during her pregnancy. The family history was negative for similar conditions. Infant was diagnosed to have aplasia cutis congenita. The lesions were treated with Soframycin dressing and all the defects healed within three months leaving atrophic scars.

[Selim MM, Azadeh B, Al Abdulla HA, Abdul Rahman AK. Aplasia cutis congenita current views and a case report. Gulf J. Dermatol. Venerol. 1996; 3(1):21-9.]

Saudi Arabia

Taifour Sulaiman and Quazi (2004) described a 2-day-old female infant who presented with large bilateral symmetrical skin defects involving both sides of the lateral aspects of her trunk. The affected areas were covered with a transparent membrane, and the underlying blood vessels were clearly visible. A skin biopsy confirmed the absence of epidermis, dermis and subcutaneous fat. There was no family history of a similar condition, although the parents were consanguineous. Despite the large affected surface area, she responded very well to conservative management with topical application of antiseptic.

Al-Salem et al. (2002) described five neonates with congenital pyloric atresia. One of these patients had an associated defect of Aplasia Cutis Congenita.

Tunisia

Cherif et al. (2005) described a newborn male with epidermolysis bullosa, aplasia cutis congenital, and pyloric atresia. The infant was from a consanguineous family and had a family history of epidermolysis bullosa.

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