ACC
MCID: APL023
MIFTS: 34

Aplasia Cutis Congenita, Nonsyndromic (ACC)

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Aplasia Cutis Congenita, Nonsyndromic

MalaCards integrated aliases for Aplasia Cutis Congenita, Nonsyndromic:

Name: Aplasia Cutis Congenita, Nonsyndromic 57
Congenital Defect of Skull and Scalp 57 75
Aplasia Cutis Congenita 59 73
Acc 57 75
Aplasia Cutis Congenita, Non-Syndromic 75
Scalp Defect, Congenital 57
Congenital Scalp Defect 75

Characteristics:

Orphanet epidemiological data:

59
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
aplasia cutis congenita, nonsyndromic:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 107600
Orphanet 59 ORPHA1114
ICD10 via Orphanet 34 Q84.8
UMLS via Orphanet 74 C0282160
MeSH 44 D004476
SNOMED-CT via HPO 69 263681008 258211005
UMLS 73 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

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)

MalaCards based summary : Aplasia Cutis Congenita, Nonsyndromic, also known as congenital defect of skull and scalp, is related to aplasia cutis congenita and scalp defects and postaxial polydactyly. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1, Ribosome Biogenesis Factor). Affiliated tissues include skin, bone and heart, and related phenotypes are aplasia cutis congenita over the scalp vertex and facial palsy

UniProtKB/Swiss-Prot : 75 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 in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita, Nonsyndromic

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 30.3 BMS1 DLL4
2 scalp defects and postaxial polydactyly 11.7
3 adams-oliver syndrome 11.7
4 corpus callosum, agenesis of 11.7
5 adrenocortical carcinoma, hereditary 11.6
6 adams-oliver syndrome 1 11.5
7 oliver syndrome 9.9
8 knobloch syndrome 1 9.7
9 polydactyly 9.7
10 spastic hemiplegia 9.7
11 hemiplegia 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 59 32 Very frequent (99-80%) HP:0004471
2 facial palsy 59 Occasional (29-5%)
3 skin ulcer 59 Frequent (79-30%)
4 prolonged bleeding time 59 Occasional (29-5%)
5 abnormality of bone mineral density 59 Occasional (29-5%)
6 spinal dysraphism 59 Very frequent (99-80%)
7 skull defect 59 Very frequent (99-80%)
8 congenital localized absence of skin 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 BMS1 DLL4

Drugs & Therapeutics for Aplasia Cutis Congenita, Nonsyndromic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421

Search NIH Clinical Center for Aplasia Cutis Congenita, Nonsyndromic

Genetic Tests for Aplasia Cutis Congenita, Nonsyndromic

Anatomical Context for Aplasia Cutis Congenita, Nonsyndromic

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

41
Skin, Bone, Heart, Brain, Eye, Thyroid

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show top 50) (show all 320)
# Title Authors Year
1
Erratum: Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29493657 )
2018
2
Integra<sup>Ar</sup>-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome. ( 29777447 )
2018
3
Aplasia cutis congenita: A report. ( 29547189 )
2018
4
Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 )
2018
5
A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. ( 29048413 )
2018
6
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction. ( 29353258 )
2018
7
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
2017
8
Case of linear bullous aplasia cutis congenita. ( 28836683 )
2017
9
Aplasia cutis congenita type V: a case report and review of the literature. ( 28480995 )
2017
10
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
11
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway. ( 28110515 )
2017
12
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
13
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome. ( 29033814 )
2017
14
Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29204308 )
2017
15
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
16
Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp. ( 28968325 )
2017
17
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
18
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
19
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. ( 28966538 )
2017
20
Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome. ( 29040903 )
2017
21
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
22
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
23
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
24
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
25
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
26
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
27
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
28
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
29
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
30
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
31
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
32
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
33
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
34
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
35
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
36
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
37
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
38
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
39
Aplasia Cutis Congenita: Trichoscopy Findings. ( 28442877 )
2016
40
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
41
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
42
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
43
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
44
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. ( 25787706 )
2015
45
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
46
Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. ( 26010404 )
2015
47
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
48
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
49
Aplasia cutis congenita: A case report and literature review. ( 26640568 )
2015
50
Aplasia Cutis Congenita Associated with Fetus Papyraceus. ( 26212801 )
2015

Variations for Aplasia Cutis Congenita, Nonsyndromic

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

75
# Symbol AA change Variation ID SNP ID
1 BMS1 p.Arg930His VAR_072539 rs587777706

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMS1 NM_014753.3(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh37 Chromosome 10, 43315975: 43315975
2 BMS1 NM_014753.3(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh38 Chromosome 10, 42820527: 42820527

Expression for Aplasia Cutis Congenita, Nonsyndromic

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

Pathways for Aplasia Cutis Congenita, Nonsyndromic

GO Terms for Aplasia Cutis Congenita, Nonsyndromic

Sources for Aplasia Cutis Congenita, Nonsyndromic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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