Familial Occurrence of Aplasia Cutis Congenita

Fukamizu, Hidekazu; Matsumoto, Kichiro; Inoue, K.; Moriguchi, Takahiko

doi:10.1111/j.1524-4725.1982.tb01096.x

Cited by 10 publications

(6 citation statements)

References 7 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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“…As Dr. Mahler stated, aplasia cutis congenita (ACC) may be looked upon as a syndrome which includes both a localized type usually limited to the scalp, whose mode of inheritance is autosomal dominant as in our reported case, 1 and a more extensive form affecting the trunk and limbs, which seems to have an autosomal recessive pattern of inheritance 2 …”

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confidence: 68%

“…I read with great interest the article of Dr. Fukamizu et al, “Familial Occurrence of Aplasia Cutis Congenita” (J. Dermatol.…”

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confidence: 99%

“…Aplasia cutis congenita (ACC) may be looked upon as a syndrome, descriptive or localized, involving several organs or systems. In many presentations in the literature, 1,2 the congenital absence of skin has been solely described in the scalp area, thus entitled “congenital defect of scalp” with or without skull involvement. Goldsmith in 1922, 3 Rosenbaum in 1951, 4 and Bourreau in 1961 5 suggested that in these types of localized skin agenesis the mode of inheritance is autosomal dominant.…”

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confidence: 99%

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Resnik¹,

Swanson²,

STONER³

et al. 1983

The Journal of Dermatologic Surgery and Oncology

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“…Stephan et al [39] mentioned that pressure caused by cerebral development may cause this congenital skin defect. The embryologic theory maintains that aplasia cutis congenita is a primary failure of differentiation in embryonic life [17,19,40]. Maternal age and general health (nutritional and hormonal disturbances, vitamin deficiency, medications taken during pregnancy), as well as hereditary factors were also considered as a cause.…”

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confidence: 99%