MCID: APL006
MIFTS: 42

Aplasia Cutis Congenita malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Aplasia Cutis Congenita

About this section
Sources:
41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Aplasia Cutis Congenita, Aliases & Descriptions:

Name: Aplasia Cutis Congenita 41 20 43 47 22
Scalp Defect Congenital 41 21
Congenital Defect of the Skull and Scalp 21
Aplasia Cutis Congenita Nonsyndromic 41
Congenital Defect of Skull and Scalp 41
 
Nonsyndromic Aplasia Cutis Congenita 21
Congenital Absence of Skin on Scalp 21
Congenital Ulcer of the Newborn 21
Agenesis of Corpus Callosum 60
Acc 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
aplasia cutis congenita:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet47 1114
ICD10 via Orphanet26 Q84.8

Summaries for Aplasia Cutis Congenita

About this section


NIH Rare Diseases:41 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 skin perfusion.  last updated: 3/22/2010

MalaCards based summary: Aplasia Cutis Congenita, also known as scalp defect congenital, is related to adams-oliver syndrome 1 and adams-oliver syndrome, and has symptoms including skull defect, aplasia/hypoplasia of the skin and spinal dysraphism. An important gene associated with Aplasia Cutis Congenita is BMS1 (BMS1 ribosome biogenesis factor), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and G protein signaling Regulation of CDC42 activity. Affiliated tissues include skin, bone and heart, and related mouse phenotype reproductive system.

Genetics Home Reference:21 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.

Wikipedia:63 Aplasia cutis congenita (also known as \"Cutis aplasia,\" \"Congenital absence of skin,\" and... more...

Related Diseases for Aplasia Cutis Congenita

About this section

Diseases in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita, Nonsyndromic Aplasia Cutis Congenita Dominant
Aplasia Cutis Congenita Recessive

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1adams-oliver syndrome 131.0ARHGAP31
2adams-oliver syndrome10.8
3epidermolysis bullosa10.7
4oliver syndrome10.7
5aplasia cutis congenita of limbs recessive10.7
6aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.6
7aplasia cutis congenita intestinal lymphangiectasia10.6
8aplasia cutis congenita, nonsyndromic10.6
9charcot-marie-tooth type 1 aplasia cutis congenita10.6
10focal facial dermal dysplasia10.5
11oculoectodermal syndrome10.5
12alopecia10.5
13aplasia cutis congenita dominant10.5
14aplasia cutis congenita recessive10.5
15motor sensory neuropathy type 1 aplasia cutis congenita10.5
16adenoiditis10.4
17tetralogy of fallot10.4
18adams-oliver syndrome 510.4
19scalp-ear-nipple syndrome10.4
20retinitis10.4
21syndactyly10.4
22split cord malformation10.4
23didymosis aplasticosebacea10.4
24salivary gland adenoid cystic carcinoma10.4
25agenesis of the corpus callosum10.3
26peripheral vascular disease10.3
27vascular disease10.3
28focal facial dermal dysplasia 3, setleis type10.2
29adams-oliver syndrome 410.2
30wolf-hirschhorn syndrome10.2
31branchiooculofacial syndrome10.2
32focal facial dermal dysplasia 410.2
33parietal foramina 210.2
34johanson-blizzard syndrome10.2
35adams-oliver syndrome 210.2
36lipoma10.2
37epidermolysis bullosa, junctional, with pyloric stenosis10.2
38parietal foramina 110.2
39arteriovenous fistula10.2
40antiphospholipid syndrome10.2
41polydactyly10.2
42microcephaly10.2
43microphthalmia10.2
44situs inversus10.2
45esophageal atresia10.2
46epidermolysis bullosa simplex10.2
47arteriovenous malformation10.2
48sagittal sinus thrombosis10.2
49periventricular leukomalacia10.2
50autosomal recessive disease10.2

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



Diseases related to aplasia cutis congenita

Symptoms for Aplasia Cutis Congenita

About this section

Symptoms:

 47 (show all 9)
  • scalp/skull defect
  • skin hypoplasia/aplasia/atrophy
  • neural tube defect
  • autosomal dominant inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • facial palsy
  • bone/osseous hypoplasia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • autosomal recessive inheritance

HPO human phenotypes related to Aplasia Cutis Congenita:

(show all 7)
id Description Frequency HPO Source Accession
1 skull defect hallmark (90%) HP:0001362
2 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
3 spinal dysraphism hallmark (90%) HP:0010301
4 skin ulcer typical (50%) HP:0200042
5 abnormality of coagulation occasional (7.5%) HP:0001928
6 abnormality of bone mineral density occasional (7.5%) HP:0004348
7 facial palsy occasional (7.5%) HP:0010628

Drugs & Therapeutics for Aplasia Cutis Congenita

About this section

Drug clinical trials:

Search ClinicalTrials for Aplasia Cutis Congenita

Search NIH Clinical Center for Aplasia Cutis Congenita

Genetic Tests for Aplasia Cutis Congenita

About this section

Genetic tests related to Aplasia Cutis Congenita:

id Genetic test Affiliating Genes
1 Aplasia Cutis Congenita20 22

Anatomical Context for Aplasia Cutis Congenita

About this section

MalaCards organs/tissues related to Aplasia Cutis Congenita:

31
Skin, Bone, Heart, Brain, Eye, Thyroid

Animal Models for Aplasia Cutis Congenita or affiliated genes

About this section

MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3RBPJ, COX7B, ACHE, RELN

Publications for Aplasia Cutis Congenita

About this section

Articles related to Aplasia Cutis Congenita:

(show top 50)    (show all 262)
idTitleAuthorsYear
1
Aplasia cutis congenita presenting as vacuum-extractor-related trauma. (25754144)
2015
2
Conservative Healing of an 11a88A9a889-cm Aplasia Cutis Congenita of the Scalp with Bone Defect. (25485218)
2014
3
Aplasia cutis congenita of eyelid: case report. (23703630)
2013
4
Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome. (22122611)
2012
5
Aplasia cutis congenita of the trunk associated with fetus papyraceous. (22777438)
2012
6
Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. (22826717)
2012
7
Management of aplasia cutis congenita of the scalp. (23147310)
2012
8
Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy. (21995270)
2011
9
Type V aplasia cutis congenita. (20220274)
2010
10
A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. (19638992)
2009
11
Aplasia cutis congenita associated with azathioprine. (20361680)
2009
12
Membranous aplasia cutis congenita: a recognizable lesion on prenatal sonography. (19778889)
2009
13
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (18348258)
2008
14
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. (17159513)
2007
15
Aplasia cutis congenita in a defined population from northwest Spain. (17155992)
2006
16
Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd. (17121085)
2006
17
Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings. (17083897)
2006
18
Aplasia cutis congenita of the scalp: therapeutic modalities. (16936401)
2006
19
Aplasia cutis congenita of the trunk in a Saudi newborn. (15308410)
2004
20
Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance? (14994248)
2004
21
Asymmetrical nonscalp aplasia cutis congenita: a case report. (15729867)
2004
22
Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)
2003
23
Reconstruction of aplasia cutis congenita (group V) of the trunk in a newborn. (12711994)
2003
24
Management of aplasia cutis congenita in a non-scalp location. (12479434)
2002
25
Surgical treatment of aplasia cutis congenita of the scalp associated with bilateral coronal synostosis. (12140414)
2002
26
Aplasia cutis congenita in surviving co-twins: four unrelated cases. (11841641)
2001
27
Reconstruction of aplasia cutis congenita of the trunk in a newborn infant using acellular allogenic dermal graft and cultured epithelial autografts. (10783107)
2000
28
Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome? (10457858)
1999
29
Aplasia cutis congenita of the scalp associated with meningoencephalocele and situs inversus. (10671101)
1999
30
Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions. (10651164)
1999
31
Pathological case of the month. Temporal triangular alopecia and aplasia cutis congenita. (9856438)
1998
32
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. (9747372)
1998
33
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
1998
34
Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. (9415483)
1997
35
Conservative management of aplasia cutis congenita. (9179253)
1997
36
Aplasia cutis congenita after exposure to methimazole: a causal relationship? (8547058)
1995
37
Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero. (7949818)
1994
38
Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. (1390145)
1992
39
Aplasia cutis congenita of the scalp: issues in its management. (1822131)
1991-1992
40
Large skull defect in aplasia cutis congenita treated by pericranial flap: long-term follow-up. (2006845)
1991
41
Bitemporal aplasia cutis congenita. (2616724)
1989
42
Increased amniotic acetylcholinesterase activity with a fetus papyraceus and aplasia cutis congenita. (2453823)
1988
43
Aplasia cutis congenita: a clinical review and proposal for classification. (3514708)
1986
44
Total reconstruction of aplasia cutis congenita involving scalp, skull, and dura. (3513230)
1986
45
Aplasia cutis congenita. (6535776)
1984
46
Familial occurrence of aplasia cutis congenita. (7153405)
1982
47
Aplasia cutis congenita and the fetal scalp electrode. (900208)
1977
48
Proceedings: The syndrome of aplasia cutis congenita with terminal transverse defects of limbs. (953241)
1976
49
Congenital scalp defects: aplasia cutis congenita. (1110388)
1975
50
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. (4917433)
1970

Variations for Aplasia Cutis Congenita

About this section

Expression for genes affiliated with Aplasia Cutis Congenita

About this section
Search GEO for disease gene expression data for Aplasia Cutis Congenita.

Pathways for genes affiliated with Aplasia Cutis Congenita

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ITGB4, RELN
29.4ARHGAP31, DOCK6

Compounds for genes affiliated with Aplasia Cutis Congenita

About this section

GO Terms for genes affiliated with Aplasia Cutis Congenita

About this section

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

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:00074179.6COX7B, RELN
2response to woundingGO:00096119.4ITGB4, ACHE
3cell adhesionGO:00071558.7ITGB4, ACHE, RELN

Products for genes affiliated with Aplasia Cutis Congenita

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Aplasia Cutis Congenita

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet