Aplasia Cutis Congenita

Chen, Harold

doi:10.1007/978-1-4614-6430-3_15-3

Cited by 1 publication

(4 citation statements)

References 49 publications

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“…Affected patients present with translucent, well‐demarcated, ulcerated areas devoid of various tissue components, which can include the epidermis, dermis, subcutaneous tissue, and bone 2 . ACC occurs along the scalp vertex in 85% of cases 2,3 . To date, the etiology of ACC is unclear and appears to be multifactorial.…”

Section: Introductionmentioning

confidence: 99%

“…Most cases are isolated, but there have been reported associations with multiple genetic syndromes and concomitant anomalies 2,4‐6 . Factors such as genetic mutations, teratogen exposure, trauma, neural tube defects, intrauterine infections, fetus papyraceus, and intrauterine vascular compromise have been described as possible etiologies 2,3 . Associated genetic mutations tend to be sporadic, but familial cases with dominant and recessive inheritance patterns have been described, as well as cases of post‐zygotic mosaicism 3 …”

Section: Introductionmentioning

confidence: 99%

“…2 ACC occurs along the scalp vertex in 85% of cases. 2,3 To date, the etiology of ACC is unclear and appears to be multifactorial. Most cases are isolated, but there have been reported associations with multiple genetic syndromes and concomitant anomalies.…”

mentioning

confidence: 99%

“…2,3 Associated genetic mutations tend to be sporadic, but familial cases with dominant and recessive inheritance patterns have been described, as well as cases of post-zygotic mosaicism. 3 We present the case of a 3-month-old boy who presented at birth with a diagnosis of ACC of unknown etiology involving his face, neck, chest, abdomen, back, and extremities, affecting approximately 80% of his total body surface area (TBSA). This case adds to the literature due to the patient's extensive scalp-sparing ACC, which led to respiratory compromise and required multidisciplinary surgical management.…”

mentioning

confidence: 99%

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Multidisciplinary management of a previously unreported presentation of severe aplasia cutis congenita

Davis

Voller

Gonzalez

et al. 2021

Pediatric Dermatology

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First described by Cordon in 1767, aplasia cutis congenita (ACC) is characterized by the complete or partial absence of skin at birth. 1 ACC has an estimated annual incidence of 1 in 10 000 live births.Affected patients present with translucent, well-demarcated, ulcerated areas devoid of various tissue components, which can include the epidermis, dermis, subcutaneous tissue, and bone. 2 ACC occurs along the scalp vertex in 85% of cases. 2,3 To date, the etiology of ACC is unclear and appears to be multifactorial. Most cases are isolated, but there have been reported associations with multiple genetic syndromes and concomitant anomalies. 2,[4][5][6] Factors such as genetic mutations, teratogen exposure, trauma, neural tube defects, intrauterine infections, fetus papyraceus, and intrauterine vascular compromise have been described as possible etiologies. 2,3 Associated genetic mutations tend to be sporadic, but familial cases with dominant and recessive inheritance patterns have been described, as well as cases of post-zygotic mosaicism. 3 We present the case of a 3-month-old boy who presented at birth with a diagnosis of ACC of unknown etiology involving his face, neck, chest, abdomen, back, and extremities, affecting approximately 80% of his total body surface area (TBSA). This case adds to the literature due to the patient's extensive scalp-sparing ACC, which led to respiratory compromise and required multidisciplinary surgical management.

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Section: Introductionmentioning

confidence: 99%