Aplasia cutis congenita

Classification according to ICD-10
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).

[Orpha-1] Aplasia cutis congenita. In: Orphanet (Rare Disease Database).

[Altmeyer-2] Encyclopedia Dermatology

[3] 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

[4] Aplasia cutis congenita, nonsyndromic. In: Online Mendelian Inheritance in Man . (English)

[5] 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).

[6] Aplasia cutis congenita - myopia. In: Orphanet (Rare Disease Database).

[7] Aplasia cutis congenita of the limbs, recessive. In: Orphanet (Rare Disease Database).

[8] Aplasia cutis congenita with intestinal lymphangiectasia. In: Orphanet (Rare Disease Database).

[9] Didymosis aplasticosebacea. In: Orphanet (Rare Disease Database).

[10] Dysplasia, dermal facial focal, type I. In: Orphanet (database for rare diseases).

[11] SCALP syndrome. In: Orphanet (Rare Disease Database).

[12] Toriello-Lacassie-Droste syndrome. In: Orphanet (Rare Disease Database).