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Adams-Oliver syndrome is a rare congenital anomaly characterized by aplasia cutis congenita (ACC) and variable degrees of terminal transverse limb defects. We report on a neonatal case with the sporadic form of the disease with minimal expression, illustrating the wide spectrum of clinical expression in Adams-Oliver syndrome. We also review the literature and highlight the different pathogenetic hypotheses of this syndrome., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

The authors report a case of Adams-Oliver syndrome in an 11 months child. This child was referred to our unit at the age of six months with right hand brachydactyly and alopecia on the vertex. We decided not to treat hand malformations, given the lack of functional impact. Alopecia of the vertex was corrected by tissue expansion of the scalp, with a satisfactory cosmetic result at five months., (Copyright © 2010. Published by Elsevier SAS.)

Introduction: Cutis verticis gyrata (CVG) is a rare and slowly progressive deformity of the scalp with thick gyrated skin folds and ridges which are similar to gyri of the brain cortex. Those folds can lead to local skin infections, to a social and cosmetic complain. CVG can be classified into two forms: primary (essential and non-essential) and secondary. To date, fifteen operated cases of primary essential CVG have been reported in the medical literature., Case Report: We report the case of an 18 year-old male patient with a primary essential CVG. There were several large skin folds in the sagittal axis on the vertex region, and in the coronal axis on the occipital region. He did not present any cutaneous complication. His main complains was the unaesthetic aspect of his scalp with a psychological complex. The disease had occurred during puberty. We present the excision pattern and the results with a six months follow-up., Conclusion: CVG can be treated surgically with resection of the thickened excess skin in coronal and sagittal axis. Scalp lift must be effective all over the different areas of the scalp. The scalp flaps must have a reliable vascularisation. Combined incisions of the galea help to treat the residual folds. The excision pattern must be reproductible, as this disease is progressive., (2009 Elsevier Masson SAS. All rights reserved.)

Aplasia cutis congenita is a rare malformation characterized by absence of skin. We report three new cases, localized on the vertex with one appearing as a familial form and requiring an emergent surgical repair with a favorable outcome. After a review of the literature, the authors discuss nosological aspects and etiological problems which are still not resolved. It seems that vascular differentiation of the skin could play an associated role. As regards of treatment, different attitudes are possible and are exposed, with a preference for surgery which is the method of choice for the authors.

The authors report about a familial case of skin aplasia of the vertex cranii, of which they present a form that required emergent surgical repair with a favorable outcome. The investigation allowed tracing two relatives with minor forms expressed as alopecia of the vertex. Skin aplasia of the vertex cranii is an exceptional condition, which consists in the congenital absence of cutaneous, bony and/or dural tissue in the cranium. The various etiopathogenetic, clinical, diagnostic, evolutive and therapeutic aspects are reviewed.

We report on a case of familial congenital scalp defect with fetal bleeding during labor. The authors emphasize the frequency of familial forms and the potential risk of such abnormalities during labor's monitoring. Treatment and classification are reviewed. The prognosis is good, as shown by the mother's case 27 years later.

The authors report a case of a skin defect in the scalp of a child whose mother took carbimazole during her pregnancy. Including our case there are now 15 congenital scalp defects reported: however, these rare cases do not show that carbimazole should not be used during pregnancy.

Report of four cases of congenital defects of the scalp. In two of these cases, the skin defect was associated with a skull defect and in one, there were other cranial deformities. In each case, the lesion seemed isolated in otherwise normal children. This study contains a review of congenital scalp defects. The different aspects of this rare disease are presented and the treatment is discussed with reference to natural evolution. The authors differentiate between cases with isolated lesion and cases with associated malformations or abnormalities, malformation syndromes, as has been previously defined. In the case of skull defects, it is thought that immediate reparatory surgery must be performed, to prevent infection and hemorrhage of sagittal venous sinus, as it was the case in one of the four children. The covering of the defect can be realized with rotated skin flaps, which seem preferable to any form of plastic surgery, for cosmetic reasons, and for the secondary treatment of the skull defect, if this is necessary. When spontaneous closure of the bone defect, is not noted, which occurs generally in the case of large defects, it seems reasonable to close the latter by cranio-plasty, to protect the brain. In one of the four cases reported, this technical approach of the lesion was used, with a good result being reported, four years later.

The authors described a one-month-old baby girl showing a zone of cutaneous aplasia of the vertex; she presented, in addition, an extensive interventricular communication. A family study enabled them to ascertain that her three-year-old brother had a scarred alopecial area starting at the bregmatic region and continuing backwards along the median line; the six-year-old sister also had a scar on the vertex. Neither parent had any anomaly of the scalp. It would appear that circumscribed cutaneous aplasias generally result from a localised developmental defect, the exact mechanism of which remains unexplained. Circumscribed cutaneous aplasia which is sporadic and isolated in the majority of cases of trisomy 13) can, however, be transmitted as a mendelian trait, usually dominant. In the family under study, the absence of any lesion in the parents and the very small distance separating the two communes from which they originated rather favour a recessive autosomal mode of heredity.