Aplasia cutis congenita
Classification according to ICD-10 | |
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Q84.8 | Other specified congenital malformations of the integument - aplasia cutis congenita |
ICD-10 online (WHO version 2019) |
The aplasia cutis congenita ( ACC ) is an intrauterine acquired or congenital disease , a mostly localized congenital aplasia of the cutis , often to the head. Often there are other abnormalities in the eyes , throat , nose or ears or the limbs .
Synonyms are: Aplasia cutis verticis congenita (ACCV) ; English Aplasia cutis congenita, nonsyndromic; Congenital Defect of Skull and Scalp; Scalp defect, congenital
The disease was first described in 1767 by M. Cordon .
distribution
The frequency is given as 1–5 / 10,000. In familial forms, inheritance is autosomal - recessive or, more often, autosomal dominant .
root cause
Possible causes are infections, vascular malformations, amniotic defects, teratogenic drugs (e.g. ACE inhibitors , carbimazole , methimazole or valproic acid ).
There is an association with severe malformations such as omphalocele , gastroschisis or spina bifida .
Rare familial forms are based on mutations in the BMS1 gene at locus 10q11.21.
Classification
According to IJ Frieden , the following forms can be distinguished:
- Type 1: ACC of the scalp
- Type 2: ACC of the scalp with limb defects associated with Adams-Oliver syndrome
- Type 3: ACC with epidermal nevi associated with nevus sebaceus ; Nevus verrucosus
- Type 4: ACC with underlying malformations such as encephalocele , meningocele , spina bifida or omphalocele
- Type 5: ACC with fetus papyraceus
- Type 6: ACC with epidermolysis bullosa
- Type 7: ACC in the extremities, association with epidermolysis bullosa
- Type 8: ACC in specific teratogens such as methimazole, intrauterine infection with herpes simplex or varicella zoster virus
- Type 9: ACC in malformation syndromes: trisomy 13 , Goltz-Gorlin syndrome , Delleman syndrome , Johanson-Blizzard syndrome and EEC syndrome
Clinical manifestations
Clinical criteria are:
- In 70% of the cases, the head is affected in the vertex area, less often the trunk or the proximal extremities.
- Even at birth, a circumscribed, hairless skin defect covered by a thin membrane with the formation of an atrophic, hairless, symptom-free scar
ACC occurs in the following syndromes:
- Aplasia cutis congenita - myopia (Gershonibaruch-Leibo syndrome)
- Aplasia cutis congenita of the limbs, recessive
- Aplasia cutis congenita with intestinal lymphangiectasia ( aplasia cutis congenita, autosomal recessive; bronspiegel-Zelnick syndrome )
- Didymosis aplasticosebacea ( aplasia cutis congenita-nevus sebaceus syndrome )
- Dysplasia, dermal facial focal, type I ( aplasia cutis congenita, bitemporale; Brauer's syndrome; FFDD type I; FFDD1; focal facial dermal dysplasia 1 of the Brauer type )
- SCALP syndrome ( nevus sebaceus-CNS malformations-aplasia cutis congenita-limbales; dermoid-pigmented nevus syndrome )
- Toriello-Lacassie-Droste syndrome ( aplasia cutis congenita with epibulbar dermoid )
literature
- R. De Wilde, M. Hesseling, R. Petrik: Aplasia cutis congenita. In: Journal for Obstetrics and Perinatology , Volume 192, No. 6, 1988 Nov-Dec, pp. 282-283, PMID 3232429 .
- JE Betancourth-Alvarenga, F. Vázquez-Rueda, V. Vargas-Cruz, RM Paredes-Esteban, J. Ayala-Montoro: Manejo quirúrgico de la aplasia cutis congénita. In: Anales de pediatría (Barcelona, Spain: 2003) , Volume 83, No. 5, November 2015, pp. 341-345, doi: 10.1016 / j.anpedi.2015.02.005 , PMID 25804551 .
Individual evidence
- ↑ a b c d Aplasia cutis congenita. In: Orphanet (Rare Disease Database).
- ↑ a b c Encyclopedia Dermatology
- ^ M. Cordon: Extrait d´une lettre an sujet de trois enfants de la meme mère nés avec partie des extrémités dénuée de peau. In: J Med Chir Pharmacie Vol. 26, 1767, pp. 556-557
- ↑ Aplasia cutis congenita, nonsyndromic. In: Online Mendelian Inheritance in Man . (English)
- ^ IJ Frieden: Aplasia cutis congenita: a clinical review and proposal for classification. In: Journal of the American Academy of Dermatology. Vol. 14, No. 4, April 1986, pp. 646-660, PMID 3514708 (review).
- ↑ Aplasia cutis congenita - myopia. In: Orphanet (Rare Disease Database).
- ↑ Aplasia cutis congenita of the limbs, recessive. In: Orphanet (Rare Disease Database).
- ↑ Aplasia cutis congenita with intestinal lymphangiectasia. In: Orphanet (Rare Disease Database).
- ↑ Didymosis aplasticosebacea. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, dermal facial focal, type I. In: Orphanet (database for rare diseases).
- ↑ SCALP syndrome. In: Orphanet (Rare Disease Database).
- ↑ Toriello-Lacassie-Droste syndrome. In: Orphanet (Rare Disease Database).