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 57
Aplasia Cutis Congenita 20 58 36 29 54 6 39 70
Congenital Defect of Skull and Scalp 57 20 72
Acc 57 43 72
Nonsyndromic Aplasia Cutis Congenita 12 43
Scalp Defect Congenital 20 43
Congenital Defect of the Skull and Scalp 43
Aplasia Cutis Congenita, Non-Syndromic 72
Aplasia Cutis Congenita Nonsyndromic 20
Congenital Absence of Skin on Scalp 43
Congenital Ulcer of the Newborn 43
Scalp Defect, Congenital 57
Congenital Scalp Defect 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080661
OMIM® 57 107600
KEGG 36 H01896
MeSH 44 D004476
ICD10 via Orphanet 33 Q84.8
UMLS via Orphanet 71 C0282160
Orphanet 58 ORPHA1114
UMLS 70 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

MedlinePlus Genetics : 43 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 brain, and related phenotypes are spinal dysraphism and aplasia cutis congenita over the scalp vertex

Disease Ontology : 12 A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has material basis in heterozygous mutation in the BMS1 gene on chromosome 10q11.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 402)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 31.0 DLL4 BMS1
2 epidermolysis bullosa junctionalis with pyloric atresia 30.9 PLEC ITGB4
3 epidermolysis bullosa 30.8 PLEC ITGB4
4 pyloric atresia 30.3 PLEC ITGB4
5 epidermolysis bullosa simplex 30.1 PLEC ITGB4
6 epidermolysis bullosa with pyloric atresia 30.1 PLEC ITGB4
7 epidermolysis bullosa dystrophica 30.0 PLEC ITGB4
8 epidermolysis bullosa simplex with pyloric atresia 29.9 PLEC ITGB4
9 kindler syndrome 29.5 PLEC ITGB4
10 junctional epidermolysis bullosa 29.5 PLEC ITGB4 ACHE
11 skin disease 29.5 PLEC ITGB4 ACHE
12 oculoectodermal syndrome 11.9
13 linear skin defects with multiple congenital anomalies 2 11.8
14 adams-oliver syndrome 1 11.8
15 focal facial dermal dysplasia 1, brauer type 11.6
16 focal facial dermal dysplasia 11.6
17 scalp-ear-nipple syndrome 11.5
18 aplasia cutis congenita of limbs recessive 11.5
19 adams-oliver syndrome 5 11.5
20 adams-oliver syndrome 4 11.5
21 adams-oliver syndrome 6 11.5
22 corpus callosum, agenesis of 11.4
23 focal facial dermal dysplasia 3, setleis type 11.4
24 adams-oliver syndrome 3 11.4
25 focal facial dermal dysplasia 4 11.4
26 recessive dystrophic epidermolysis bullosa-generalized other 11.4
27 aplasia cutis congenita of limbs, autosomal recessive 11.3
28 aplasia cutis congenita, high myopia, and cone-rod dysfunction 11.3
29 didymosis aplasticosebacea 11.3
30 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 11.3
31 jones hersh yusk syndrome 11.3
32 adenoid cystic carcinoma 11.3
33 corpus callosum, agenesis of, with abnormal genitalia 11.3
34 adrenal cortical carcinoma 11.3
35 restrictive dermopathy, lethal 11.2
36 focal facial dermal dysplasia 2, brauer-setleis type 11.2
37 acalvaria 11.2
38 agenesis of the corpus callosum with peripheral neuropathy 11.1
39 aplasia cutis congenita with intestinal lymphangiectasia 11.1
40 adrenal carcinoma 11.0
41 aicardi syndrome 10.9
42 acetyl-coa carboxylase deficiency 10.9
43 vici syndrome 10.9
44 lissencephaly, x-linked, 2 10.9
45 corpus callosum, partial agenesis of, x-linked 10.9
46 adams-oliver syndrome 2 10.9
47 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 10.9
48 ceruminous adenocarcinoma 10.9
49 acinar cell carcinoma of pancreas 10.9
50 heart disease 10.7

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 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
7 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
8 prolonged bleeding time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003010
9 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.55 ACHE BMS1 DLL4 ITGB4 PLEC
2 mortality/aging MP:0010768 9.35 ACHE BMS1 DLL4 ITGB4 PLEC
3 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 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 (disease) 29 BMS1

Anatomical Context for Aplasia Cutis Congenita, Nonsyndromic

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

40
Skin, Bone, Brain, Heart, Eye, Thyroid

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show top 50) (show all 588)
# Title Authors PMID Year
1
BMS1 is mutated in aplasia cutis congenita. 57 6 61
23785305 2013
2
Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation. 57 61
21614989 2011
3
Aplasia cutis congenita associated with Goltz syndrome in a male neonate. 61 57
20420028 2010
4
Extensive form of aplasia cutis congenita: a new syndrome? 57 61
9678709 1998
5
Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. 61 57
9415483 1997
6
Aplasia cutis congenita and associated disorders: an update. 57 61
7554362 1995
7
Aplasia cutis congenita of the scalp in five successive generations of one family. 57 61
7809261 1995
8
Aplasia cutis congenita of the scalp without other defects in three siblings. 61 57
1515766 1992
9
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases. 61 57
862297 1977
10
Aplasia cutis congenita. 57 61
5536130 1970
11
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. 61 57
4917433 1970
12
Aplasia cutis congenita. 61 57
14037468 1962
13
Mutations in KCTD1 cause scalp-ear-nipple syndrome. 57
23541344 2013
14
Litigation over congenital scalp defects. 57
1346711 1992
15
[Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)]. 57
752066 1978
16
The 4p-syndrome, with a report of two new cases. 57
4725911 1973
17
Congenital defect of scalp and skull in three generations of one family; case report. 57
5423487 1970
18
Congenital scalp defects in mother and child. 57
6024866 1967
19
CONGENITAL SCALP DEFECTS IN TWIN SISTERS. 57
14332364 1965
20
CONGENITAL SCALP DEFECTS IN FATHER AND SON. 57
14332365 1965
21
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. 57
5895684 1965
22
[Aseptic gangrene of the cranium as hereditary circumscribed aplasia of the newborn]. 57
13946964 1963
23
[Transmission, through three generations, of circumscribed cutaneous aplasia of the crown of the head]. 57
13066907 1953
24
Localized Congenital Defects of the Scalp. 57
29639888 1931
25
Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels. 61 54
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
[Aplasia Cutis Congenita with Fetus Papyraceus (ACC type 5) - A Visual Diagnosis]. 61
33339067 2021
29
Bullous Aplasia Cutis Congenita-Description of a Novel Dermoscopic Feature. 61
33747625 2021
30
Aplasia cutis congenita in a CDC42-related developmental phenotype. 61
33283961 2021
31
Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature. 61
33658072 2021
32
The spiral flap: A novel approach to scalp closure in children. 61
33431195 2021
33
The spectrum of pediatric scarring alopecia: A retrospective review of 27 patients seen at Mayo Clinic. 61
33644931 2021
34
Frieden's type 7 aplasia cutis congenita in a premature neonate. 61
33569890 2021
35
Aplasia cutis congenita with dermal melanocytosis. 61
33543774 2021
36
Multidisciplinary management of a previously unreported presentation of severe aplasia cutis congenita. 61
33481290 2021
37
Dermoscopy of Aplasia Cutis Congenita: A Case Report and Review of the Literature. 61
33614222 2021
38
Topical ropivacaine for analgesia of aplasia cutis congenita in newborns with hereditary epidermolysis bullosa. 61
33261637 2020
39
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department. 61
32501579 2020
40
Pseudo-cobra neck deformity due to aplasia cutis congenita. 61
33099192 2020
41
Type V aplasia cutis congenita in a preterm newborn successfully resolved. 61
32567088 2020
42
Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome. 61
32969353 2020
43
A Rare Congenital Case: Aplasia Cutis Congenita. 61
32916734 2020
44
Standing on the shoulder of giants: Tubed pedicle radial forearm flap reconstruction for cutis aplasia. 61
32490126 2020
45
Teratogen update: Antithyroid medications. 61
32738035 2020
46
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2. 61
32498638 2020
47
Membranous aplasia cutis congenita in trisomy 18. 61
32854736 2020
48
Aplasia cutis congenita of both knees: A new therapeutic strategy. 61
32417075 2020
49
Aplasia cutis congenita in Korea: Single center experience and literature review. 61
32037608 2020
50
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. 61
32058063 2020

Variations for Aplasia Cutis Congenita, Nonsyndromic

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

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

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

72
# 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 9.33 PLEC ITGB4 ACHE
2 basement membrane GO:0005604 8.96 ITGB4 ACHE
3 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 cell communication GO:0007154 8.96 ITGB4 DLL4
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....