Aplasia cutis congenita

Guillen, P. Sanchez-Pedreiio; Pichardo, A. Rodríguez; Martínez, F. Camacho

doi:10.1016/s0190-9622(85)70184-3

Cited by 38 publications

(8 citation statements)

References 13 publications

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“…Only articles with available photographs were selected for evaluation. We identified 16 articles with good quality clinical pictures of 47 members in 20 pedigrees affected with familial aplasia cutis (Table 1) (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). In most instances, an autosomal dominant inheritance was suggested.…”

Section: Case Reportsmentioning

confidence: 99%

Familial Nonmembranous Aplasia Cutis of the Scalp

Baselga

Torrelo

Drolet

et al. 2005

Pediatric Dermatology

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Aplasia cutis of the scalp is often a sporadic condition, but familial occurrences with an autosomal dominant inheritance have been documented. Aplasia cutis of the scalp may be seen in two main clinical variants: oval-shaped membranous aplasia cutis and irregular, larger defects. We report six families in whom more than one member has aplasia cutis of the scalp, all of them with large irregular defects located over the vertex or anterior to the vertex along the sagittal suture. We review previous reports of this entity with clinical pictures and note that in most instances, the defects are of the nonmembranous variant.

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Section: Case Reportsmentioning

confidence: 99%

Familial Nonmembranous Aplasia Cutis of the Scalp

Baselga

Torrelo

Drolet

et al. 2005

Pediatric Dermatology

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“…It can present as a localized congenital defect with familial incidence (usually on the scalp) or be widespread with less familial incidence. [3] It has been associated with dysgenic hydrocephaly, extensive unilateral linear epidermal nevus, hemangiomas, and multiple defects. [1]…”

Section: Discussionmentioning

confidence: 99%

“…It probably is not attributable to a single cause but to a combination of genetic factors, teratogens,[6] compromised vasculature to the skin, and trauma. [3] The increased incidence of lesions on the vertex is considered to be the result of a point of maximum tensile forces during rapid brain growth, inducing disruption of the overlying skin at 10–18 weeks of gestation. [2] Some authors have proposed that membranous aplasia cutis congenita is an incomplete type of neural tube defect and may be derived from a similar embryological defect.…”

Section: Discussionmentioning

confidence: 99%

Bullous aplasia cutis congenita: Case report and review of the literature

García‐Romero

Narvóez-Rosales

2011

Indian J Dermatol

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Aplasia cutis congenita is a rare condition characterized by the absence of skin and sometimes other underlying structures such as bone or dura. It can be a part of various syndromes and can be associated with multiple genetic diseases, malformation patterns, or a combination of all. It is even considered as a form frustre of a neural tube defect in several literatures. Bullous aplasia cutis congenita is a clinical subtype of the condition, with extremely few cases reported in the literature. It presents as a cystic or bullous lesion at birth, which eventually transforms into an atrophic, flat scar covered by a thin epithelium. Some cases present with a dark collar hair sign around the lesion, which can be even more indicative of an underlying neural tube defect. Management remains controversial and depends on the characteristics of the lesion, but conservative treatment is usually chosen.

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“…Its incidence is 1-2.8 per 10,000 live births [1,4,]. Exact etiology of ACC is not known, but is considered to be multifactorial and is affected by various factors like genetics, intra-uterine trauma, infection, decreased blood supply to skin and teratogens (carbimazole, methimazole, valproic acid, non-steroidal anti-inflammatory drugs) [1,2,5,6]. ACC can occur anywhere on the body but most commonly seen on the scalp [1,5,7].…”

Section: Introductionmentioning

confidence: 99%

https://www.omicsonline.org/open-access/randomized-study-comparing-two-gestational-diabetes-screening-strategies-in-a-reference-maternity-hospital-in-southern-benin-2090-7214-1000295-102284.html

Bose¹,

Jha²,

Thomas³

et al. 2018

Clinics Mother Child Health

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Aplasia cutis congenita (ACC) is a rare heterogenous disorder which is characterized by focal absence of skin since birth. Underlying structures such as bone or dura may also be involved. ACC has been considered to be a forme fruste of a neural tube defect by many authors. It might occur in isolation or in association with certain syndromes. We report a case of a new born male with membranous type of ACC over vertex extending to the left parietal region with partial agenesis of parietal bone and ectopic mongolian spot over left ankle.

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Aplasia cutis congenita

Cited by 38 publications

References 13 publications

Familial Nonmembranous Aplasia Cutis of the Scalp

Familial Nonmembranous Aplasia Cutis of the Scalp

Bullous aplasia cutis congenita: Case report and review of the literature

https://www.omicsonline.org/open-access/randomized-study-comparing-two-gestational-diabetes-screening-strategies-in-a-reference-maternity-hospital-in-southern-benin-2090-7214-1000295-102284.html

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