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Familial cutaneous collagenoma

MedGen UID:
96073
Concept ID:
C0406817
Neoplastic Process
Synonym: Collagenoma, Familial Cutaneous
SNOMED CT: Familial cutaneous collagenoma (239139000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007271
OMIM®: 115250
Orphanet: ORPHA53296

Definition

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. [from ORDO]

Clinical features

From HPO
Primary testicular failure
MedGen UID:
235162
Concept ID:
C1384582
Disease or Syndrome
Testicular failure due to a condition directly affecting the testes.
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Right ventricular cardiomyopathy
MedGen UID:
384481
Concept ID:
C2063326
Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Congenital posterior occipital alopecia
MedGen UID:
870405
Concept ID:
C4024850
Congenital Abnormality
Loss of hair in the occipital region of the scalp with congenital onset.
Collagenoma
MedGen UID:
1053829
Concept ID:
CN376537
Finding
A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.
Iris atrophy
MedGen UID:
96095
Concept ID:
C0423319
Disease or Syndrome
Loss of iris tissue (atrophy)

Professional guidelines

PubMed

Asgharian B, Turner ML, Gibril F, Entsuah LK, Serrano J, Jensen RT
J Clin Endocrinol Metab 2004 Nov;89(11):5328-36. doi: 10.1210/jc.2004-0218. PMID: 15531478

Recent clinical studies

Etiology

Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177

Diagnosis

Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177
Boente Mdel C, Primc NB, Asial RA, Winik BC
Pediatr Dermatol 2004 Jan-Feb;21(1):33-8. doi: 10.1111/j.0736-8046.2004.21106.x. PMID: 14871323
Phillips JC, Knautz MA, Sangueza OP, Davis LS
J Am Acad Dermatol 1999 Feb;40(2 Pt 1):255-7. doi: 10.1016/s0190-9622(99)70199-4. PMID: 10025756
Uitto J, Santa-Cruz DJ, Eisen AZ
Br J Dermatol 1979 Aug;101(2):185-95. doi: 10.1111/j.1365-2133.1979.tb05606.x. PMID: 486326
Henderson RR, Wheeler CE Jr, Abele DC
Arch Dermatol 1968 Jul;98(1):23-7. PMID: 5657391

Clinical prediction guides

Dawn ME, Deng AC, Petrali J, Wessely C, Jaffe D, Gaspari AA
Skinmed 2008 Jan-Feb;7(1):43-5. doi: 10.1111/j.1540-9740.2007.06353.x. PMID: 18174804
Uitto J, Santa-Cruz DJ, Eisen AZ
Br J Dermatol 1979 Aug;101(2):185-95. doi: 10.1111/j.1365-2133.1979.tb05606.x. PMID: 486326

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