MCID: APL023
MIFTS: 34

Aplasia Cutis Congenita, Nonsyndromic

Categories: Genetic 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 53
Congenital Defect of Skull and Scalp 53 71
Aplasia Cutis Congenita 55 69
Acc 53 71
Aplasia Cutis Congenita, Non-Syndromic 71
Scalp Defect, Congenital 53
Congenital Scalp Defect 71

Characteristics:

Orphanet epidemiological data:

55
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
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: 55  
Rare skin diseases


External Ids:

OMIM 53 107600
Orphanet 55 ORPHA1114
UMLS via Orphanet 70 C0282160
ICD10 via Orphanet 33 Q84.8
MeSH 41 D004476
SNOMED-CT via HPO 65 263681008 258211005
UMLS 69 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

OMIM : 53 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 corpus callosum, agenesis of, and has symptoms including aplasia cutis congenita over the scalp vertex, facial palsy and skin ulcer. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1, Ribosome Biogenesis Factor). Affiliated tissues include skin and bone, and related phenotype is vision/eye.

UniProtKB/Swiss-Prot : 71 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

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:

53
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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 55 31 Very frequent (99-80%) HP:0004471
2 facial palsy 55 Occasional (29-5%)
3 skin ulcer 55 Frequent (79-30%)
4 prolonged bleeding time 55 Occasional (29-5%)
5 abnormality of bone mineral density 55 Occasional (29-5%)
6 spinal dysraphism 55 Very frequent (99-80%)
7 skull defect 55 Very frequent (99-80%)
8 congenital localized absence of skin 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

43
# 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:

38
Skin, Bone

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show top 50) (show all 315)
# Title Authors Year
1
A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. ( 29048413 )
2018
2
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction. ( 29353258 )
2018
3
Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 )
2018
4
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
5
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome. ( 29033814 )
2017
6
Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29204308 )
2017
7
Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp. ( 28968325 )
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
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. ( 28966538 )
2017
11
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
2017
12
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
13
Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome. ( 29040903 )
2017
14
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
15
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
16
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
17
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
18
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
19
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
20
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
21
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
22
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
23
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
24
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
25
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
26
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
27
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
28
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
29
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
30
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
31
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
32
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
33
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
34
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
35
Aplasia Cutis Congenita: Trichoscopy Findings. ( 28442877 )
2016
36
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
37
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
38
Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita. ( 26267580 )
2015
39
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
40
Aplasia cutis congenita presenting as vacuum-extractor-related trauma. ( 25754144 )
2015
41
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
42
Aplasia cutis congenita with "vanishing twin". ( 25919737 )
2015
43
Nonsyndromic aplasia cutis congenita: a case report. ( 26016981 )
2015
44
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? ( 25708102 )
2015
45
Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita: a case report and literature review. ( 25614301 )
2015
46
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
47
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
48
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
49
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
50
Our experience with a severe case of aplasia cutis congenita with a large skull defect. ( 26228315 )
2015

Variations for Aplasia Cutis Congenita, Nonsyndromic

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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