Familial cutaneous collagenoma
| Familial cutaneous collagenoma | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Multiple flesh-colored nodules located on the trunk and upper arms |
| Complications | None, although in some cases health complications have been reported as accompanying the disorder |
| Usual onset | Adolescence |
| Causes | Unknown, but there is a genetic basis |
| Prevention | None |
| Prognosis | good |
| Frequency | uncommon |
| Deaths | - |
Familial cutaneous collagenoma is an autosomal dominant genetic disorder characterized by the presence of multiple symmetric nodules on the trunk and upper arms in multiple members of the same family. The nodules are flesh-colored, asymptomatic, and they start appearing during adolescent years.[1][2] It has been described in 10 families worldwide.[3]
These nodules are caused by an overgrowth of collagen fibers with an accompanying decreased number of elastic fibers.[4][5]
In some cases, this condition is associated with anomalies in other parts of the body.[6]
Genetics[edit]
In a 2-generation Israeli Jewish family (whose affected members were two biological cousins), Hershkovitz et al. found a heterozygous mutation in the LEMD3 gene in both cousins and in the unaffected father of one of them.[7]
[edit]
In 1968, Henderson et al. described 3 American brothers with the condition, and found that each one of them had health complications: the first brother suffered from idiopathic cardiomyopathy, the second suffered from iris atrophy of the left eye with accompanying severe high-frequency deafness, and the third suffered from recurrent vasculitis.[8]
References[edit]
- ^ "Familial cutaneous collagenoma - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-05.
- ^ "Entry - 115250 - COLLAGENOMA, FAMILIAL CUTANEOUS - OMIM". www.omim.org. Retrieved 2022-08-05.
- ^ Curtiss, Cobos MD, Burgin MD, Paul, Gabriela, Susan. "Síndrome de colagenoma cutáneo familiar". www.visualdx.com. Retrieved 2022-08-05.
{{cite web}}: CS1 maint: multiple names: authors list (link) - ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial cutaneous collagenoma". www.orpha.net. Retrieved 2022-08-05.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Phillips, Joel C.; Knautz, Mark A.; Sangueza, Omar P.; Davis, Loretta S. (1999-02-01). "Familial cutaneous collagenoma". Journal of the American Academy of Dermatology. 40 (2): 255–257. doi:10.1016/S0190-9622(99)70199-4. ISSN 0190-9622. PMID 10025756.
- ^ "Clinical Synopsis - 115250 - COLLAGENOMA, FAMILIAL CUTANEOUS - OMIM". www.omim.org. Retrieved 2022-08-05.
- ^ Hershkovitz, D.; Amitai, D.B.; Sprecher, E. (2007-02-01). "Familial cutaneous collagenomas resulting from a novel mutation in LEMD3". British Journal of Dermatology. 156 (2): 375–377. doi:10.1111/j.1365-2133.2006.07651.x. ISSN 0007-0963. PMID 17223882. S2CID 29729749.
- ^ Henderson, Richard R.; Wheeler, Clayton E. Jr.; Abele, Donald C. (1968-07-01). "Familial Cutaneous Collagenoma: Report of Cases". Archives of Dermatology. 98 (1): 23–27. doi:10.1001/archderm.1968.01610130029005. ISSN 0003-987X. PMID 5657391.