Aplasia cutis congenita

Aplasia cutis congenita
Classification and external resources
Specialty	medical genetics
ICD-10	Q84.8 (ILDS Q84.810)
OMIM	107600
DiseasesDB	32731
eMedicine	article/1110134

Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars"^[1]) is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.^[2]^[3]

It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.^[4] It can also seen with exposure to methimazole and carbimazole in utero.^[5] This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.^[6]

Genetics

This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.^[7]

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
↑ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6 ed.). McGraw-Hill. p. 650. ISBN 0-07-138076-0.
↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10 ed.). Saunders. p. 572. ISBN 0-7216-2921-0.
↑ Online Mendelian Inheritance in Man (OMIM) 107600
↑ Rodríguez-García C; González-Hernández S; Hernández-Martín A; Pérez-Robayna N; Sánchez R; Torrelo A (2011). "Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy". Pediatric Dermatology. 28 (6): 743–745. doi:10.1111/j.1525-1470.2011.01572.x. PMID 21995270.
↑ Malan, Valerie; et al. "array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically". J. Med. Genet. Retrieved April 8, 2009.
↑ Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573

External links

Aplasia cutis congenita (ACC) on emedicine

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

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Aplasia cutis congenita

Genetics

See also

References

External links