ACC
MCID: APL023
MIFTS: 46

Aplasia Cutis Congenita, Nonsyndromic (ACC)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita, Nonsyndromic

MalaCards integrated aliases for Aplasia Cutis Congenita, Nonsyndromic:

Name: Aplasia Cutis Congenita, Nonsyndromic 56
Aplasia Cutis Congenita 52 58 36 29 54 6 39 71
Congenital Defect of Skull and Scalp 56 52 73
Acc 56 25 73
Scalp Defect Congenital 52 25
Congenital Defect of the Skull and Scalp 25
Aplasia Cutis Congenita, Non-Syndromic 73
Aplasia Cutis Congenita Nonsyndromic 52
Nonsyndromic Aplasia Cutis Congenita 25
Congenital Absence of Skin on Scalp 25
Congenital Ulcer of the Newborn 25
Scalp Defect, Congenital 56
Congenital Scalp Defect 73

Characteristics:

Orphanet epidemiological data:

58
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)


HPO:

31
aplasia cutis congenita, nonsyndromic:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 107600
KEGG 36 H01896
MeSH 43 D004476
ICD10 via Orphanet 33 Q84.8
UMLS via Orphanet 72 C0282160
Orphanet 58 ORPHA1114
UMLS 71 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

Genetics Home Reference : 25 Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.

MalaCards based summary : Aplasia Cutis Congenita, Nonsyndromic, also known as aplasia cutis congenita, is related to adams-oliver syndrome and epidermolysis bullosa junctionalis with pyloric atresia. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1 Ribosome Biogenesis Factor), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Adhesion. Affiliated tissues include skin, bone and heart, and related phenotypes are spinal dysraphism and aplasia cutis congenita over the scalp vertex

NIH Rare Diseases : 52 Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens , genes , trauma, and compromised blood flow to the skin.

OMIM : 56 Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. (107600)

KEGG : 36 Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous group of syndromes such as Adams-Oliver syndrome and Johanson-Blizzard syndrome. A mutation in the ribosomal GTPase BMS1 is identified in ACC. BMS1 has a role in processing of pre-rRNAs of the small ribosomal subunit. And mutations that affect ribosomal function can result in a cell cycle defect.

UniProtKB/Swiss-Prot : 73 Aplasia cutis congenita, non-syndromic: A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body.

Related Diseases for Aplasia Cutis Congenita, Nonsyndromic

Diseases related to Aplasia Cutis Congenita, Nonsyndromic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 379)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 31.3 DLL4 BMS1
2 epidermolysis bullosa junctionalis with pyloric atresia 31.0 PLEC ITGB4
3 epidermolysis bullosa 30.6 PLEC ITGB4
4 pyloric atresia 30.2 PLEC ITGB4
5 epidermolysis bullosa simplex 29.8 PLEC ITGB4
6 epidermolysis bullosa with pyloric atresia 29.7 PLEC ITGB4
7 epidermolysis bullosa simplex with pyloric atresia 29.7 PLEC ITGB4
8 junctional epidermolysis bullosa 29.5 PLEC ITGB4
9 bullous pemphigoid 29.1 PLEC ITGB4
10 arrhythmogenic right ventricular cardiomyopathy 28.4 PLEC ITGB4
11 aplasia cutis congenita of limbs recessive 12.7
12 aplasia cutis congenita of limbs, autosomal recessive 12.6
13 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.6
14 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.6
15 oculoectodermal syndrome 12.5
16 obsolete: recessive aplasia cutis congenita of limbs 12.5
17 adams-oliver syndrome 1 12.5
18 linear skin defects with multiple congenital anomalies 2 12.4
19 focal facial dermal dysplasia 1, brauer type 12.3
20 focal facial dermal dysplasia 12.2
21 scalp defects and postaxial polydactyly 12.0
22 adams-oliver syndrome 5 12.0
23 corpus callosum, agenesis of 12.0
24 adrenal cortical carcinoma 12.0
25 focal facial dermal dysplasia 3, setleis type 11.9
26 adenoid cystic carcinoma 11.8
27 didymosis aplasticosebacea 11.8
28 jones hersh yusk syndrome 11.8
29 restrictive dermopathy, lethal 11.8
30 scalp-ear-nipple syndrome 11.8
31 adams-oliver syndrome 4 11.7
32 adams-oliver syndrome 6 11.7
33 adrenal carcinoma 11.7
34 agenesis of the corpus callosum with peripheral neuropathy 11.6
35 adams-oliver syndrome 3 11.6
36 focal facial dermal dysplasia 4 11.6
37 recessive dystrophic epidermolysis bullosa-generalized other 11.6
38 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.5
39 corpus callosum, agenesis of, with abnormal genitalia 11.5
40 focal facial dermal dysplasia 2, brauer-setleis type 11.5
41 acalvaria 11.5
42 aplasia cutis congenita with intestinal lymphangiectasia 11.3
43 aicardi syndrome 11.2
44 acetyl-coa carboxylase deficiency 11.2
45 vici syndrome 11.1
46 corpus callosum, partial agenesis of, x-linked 11.1
47 adams-oliver syndrome 2 11.1
48 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.1
49 ceruminous adenocarcinoma 11.1
50 x-linked lissencephaly with abnormal genitalia 11.1

Graphical network of the top 20 diseases related to Aplasia Cutis Congenita, Nonsyndromic:



Diseases related to Aplasia Cutis Congenita, Nonsyndromic

Symptoms & Phenotypes for Aplasia Cutis Congenita, Nonsyndromic

Human phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spinal dysraphism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010301
2 aplasia cutis congenita over the scalp vertex 58 31 hallmark (90%) Very frequent (99-80%) HP:0004471
3 congenital localized absence of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007383
4 calvarial skull defect 31 hallmark (90%) HP:0001362
5 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
6 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
7 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
8 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
9 prolonged bleeding time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003010
10 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
11 skull defect 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
aplasia cutis congenita over the scalp vertex

Skin Nails Hair Skin:
circumscribed transparent membrane on the scalp vertex may be ulcerated (other areas of the body are rarely involved)

Skeletal Skull:
decreased ossification underlying the skin defect (in 20 to 30% of patients)

Clinical features from OMIM:

107600

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.35 ACHE BMS1 DLL4 ITGB4 PLEC
2 vision/eye MP:0005391 8.92 ACHE BMS1 DLL4 ITGB4

Drugs & Therapeutics for Aplasia Cutis Congenita, Nonsyndromic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relevance of Trichoscopy in Differential Diagnosis of Focal Non-cicatricial Alopecia in Children Unknown status NCT03260777
2 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630421

Search NIH Clinical Center for Aplasia Cutis Congenita, Nonsyndromic

Genetic Tests for Aplasia Cutis Congenita, Nonsyndromic

Genetic tests related to Aplasia Cutis Congenita, Nonsyndromic:

# Genetic test Affiliating Genes
1 Aplasia Cutis Congenita 29 BMS1

Anatomical Context for Aplasia Cutis Congenita, Nonsyndromic

MalaCards organs/tissues related to Aplasia Cutis Congenita, Nonsyndromic:

40
Skin, Bone, Heart, Brain, Liver, Kidney, Lung

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show top 50) (show all 552)
# Title Authors PMID Year
1
BMS1 is mutated in aplasia cutis congenita. 61 56 6
23785305 2013
2
Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation. 61 56
21614989 2011
3
Aplasia cutis congenita associated with Goltz syndrome in a male neonate. 61 56
20420028 2010
4
Extensive form of aplasia cutis congenita: a new syndrome? 61 56
9678709 1998
5
Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. 61 56
9415483 1997
6
Aplasia cutis congenita and associated disorders: an update. 61 56
7554362 1995
7
Aplasia cutis congenita of the scalp in five successive generations of one family. 61 56
7809261 1995
8
Aplasia cutis congenita of the scalp without other defects in three siblings. 61 56
1515766 1992
9
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases. 61 56
862297 1977
10
Aplasia cutis congenita. 61 56
5536130 1970
11
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. 61 56
4917433 1970
12
Aplasia cutis congenita. 61 56
14037468 1962
13
Mutations in KCTD1 cause scalp-ear-nipple syndrome. 56
23541344 2013
14
Litigation over congenital scalp defects. 56
1346711 1992
15
[Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)]. 56
752066 1978
16
The 4p-syndrome, with a report of two new cases. 56
4725911 1973
17
Congenital defect of scalp and skull in three generations of one family; case report. 56
5423487 1970
18
Congenital scalp defects in mother and child. 56
6024866 1967
19
CONGENITAL SCALP DEFECTS IN TWIN SISTERS. 56
14332364 1965
20
CONGENITAL SCALP DEFECTS IN FATHER AND SON. 56
14332365 1965
21
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. 56
5895684 1965
22
[Aseptic gangrene of the cranium as hereditary circumscribed aplasia of the newborn]. 56
13946964 1963
23
[Transmission, through three generations, of circumscribed cutaneous aplasia of the crown of the head]. 56
13066907 1953
24
Localized Congenital Defects of the Scalp. 56
29639888 1931
25
Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels. 54 61
7534447 1995
26
Aplasia cutis congenita, elevated alpha-fetoprotein, and a distinct amniotic fluid acetylcholinesterase electrophoretic band. 54 61
7515237 1994
27
Report of a case with aplasia cutis congenita, elevated amniotic fluid alpha-fetoprotein, and positive acetylcholinesterase band. 54 61
1384521 1992
28
Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations? 61
31691923 2020
29
Aplasia cutis congenita in Korea: single center experience and literature review. 61
32037608 2020
30
Aplasia cutis congenita of the scalp: Histopathologic features and clinicopathologic correlation in a case series. 61
31904134 2020
31
[A case of aplasia cutis congenita following in utero exposure to carbimazole]. 61
31818499 2020
32
Reconstruction of Congenital Cranial Defect Using Autologous Bone Graft in Aplasia Cutis Congenita. 61
31934975 2020
33
Aplasia Cutis Congenita in an Infant with Very Low Birth Weight. 61
31932018 2020
34
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. 61
31654484 2020
35
Newborn with a solitary hairless skin defect on the scalp vertex. 61
31788305 2019
36
Bart syndrome associated with skeletal deformities: An uncommon case report. 61
31631476 2019
37
Adams-Oliver syndrome caused by mutations of the EOGT gene. 61
31368252 2019
38
An Aplasia Cutis Congenita: Suggestion of Management Algorithm. 61
31609940 2019
39
Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant. 61
31587267 2019
40
A spot diagnosis! Aplasia cutis congenita in monozygotic twins. 61
31498100 2019
41
Treating aplasia cutis congenita in a newborn with the combination of ionic silver dressing and moist exposed burn ointment: A case report. 61
31559300 2019
42
Correction to: Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion. 61
31321519 2019
43
Extensive aplasia cutis congenita associated with cephalocranial disproportion and brain extrusion. 61
31139904 2019
44
Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia. 61
31180149 2019
45
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. 61
31184804 2019
46
New features of aplasia cutis congenita type 5 - Skin atrophy associated with respiratory insufficiency and multiple intestinal atresia caused by the early death of twin fetus. 61
30316734 2019
47
Congenital Laser-Induced Burns: A Potential Complication after Laser Photocoagulation in Monochorionic Twin Pregnancy. 61
30942125 2019
48
Aplasia cutis congenita: a case report. 61
31023179 2019
49
Topical Leptospermum Honey in the Management of Aplasia Cutis Congenita in Neonates: A Case Study. 61
31276452 2019
50
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. 61
30898718 2019

Variations for Aplasia Cutis Congenita, Nonsyndromic

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMS1 NM_014753.4(BMS1):c.2789G>A (p.Arg930His)SNV Pathogenic 155924 rs587777706 10:43315975-43315975 10:42820527-42820527
2 ADAR NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)SNV Uncertain significance 598995 rs1557887436 1:154574277-154574277 1:154601801-154601801

UniProtKB/Swiss-Prot genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

73
# Symbol AA change Variation ID SNP ID
1 BMS1 p.Arg930His VAR_072539 rs587777706

Expression for Aplasia Cutis Congenita, Nonsyndromic

Search GEO for disease gene expression data for Aplasia Cutis Congenita, Nonsyndromic.

Pathways for Aplasia Cutis Congenita, Nonsyndromic

Pathways related to Aplasia Cutis Congenita, Nonsyndromic according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Aplasia Cutis Congenita, Nonsyndromic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 PLEC ITGB4

GO Terms for Aplasia Cutis Congenita, Nonsyndromic

Cellular components related to Aplasia Cutis Congenita, Nonsyndromic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.13 PLEC ITGB4 ACHE
2 hemidesmosome GO:0030056 8.62 PLEC ITGB4

Biological processes related to Aplasia Cutis Congenita, Nonsyndromic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to wounding GO:0009611 9.16 ITGB4 ACHE
2 cell communication GO:0007154 8.96 ITGB4 DLL4
3 hemidesmosome assembly GO:0031581 8.62 PLEC ITGB4

Sources for Aplasia Cutis Congenita, Nonsyndromic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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