Congenital smooth muscle hamartoma
| Congenital smooth muscle hamartoma | |
|---|---|
| Other names | CSMH |
| Specialty | Dermatology |
Congenital smooth muscle hamartoma is typically a skin colored or lightly pigmented patch or plaque with hypertrichosis.[1]: 627 [2] Congenital smooth muscle hamartoma was originally reported in 1969 by Sourreil et al.[3]
Signs and symptoms
[edit]Although the clinical presentation of congenital smooth muscle hamartoma varies, it typically takes the form of an irregularly shaped, skin-colored, or slightly hyperpigmented patch or plaque on the trunk or extremities that is accompanied by noticeable vellus hairs. Often, it is located in the lumbosacral region.[4]
Causes
[edit]Congenital smooth muscle hamartoma most likely arises from an abnormal development that occurs during mesodermal maturation, primarily in the arrector pili muscle.[5] It is hypothesized that hypertrichosis results from the CD34 + dermal dendritic cells in the hamartoma stimulating the bulge's epithelial cells.[6]
There have been reports of familial cases recently, which raise the possibility of a genetic susceptibility.[7]
Rarely do diffuse forms of congenital smooth cell hamartoma cause the skin to fold.[5] It may indicate systemic involvement and is described as a symptom of the Michelin tire infant syndrome.[8]
Diagnosis
[edit]Histologically, the main characteristics of CSMH include reticular dermal smooth muscle hyperplasia with differently orientated, clearly defined bundles of smooth muscle[9][10] that may extend into subcutaneous adipose tissue. Hair follicles and smooth muscle proliferation are frequently tightly related.[11] Increased epidermal pigment is a sign of hyperpigmentation.[9][10] Immunohistochemical methods have recently clarified a few CSMH markers. It has been observed that CD34-positive dermal dendritic cells are an inherent component of smooth muscle hamartomas.[6] Furthermore, to distinguish clearly between skin cancers of myofibroblastic or fibroblastic origin and spindled smooth muscle cell soft tissue tumors, the cytoskeletal protein h-caldesmon has been employed as a smooth muscle cell-specific marker.[12]
See also
[edit]References
[edit]- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1835–6. ISBN 978-1-4160-2999-1.
- ^ Goldman, Mitchel P.; Kaplan, Richard P.; Heng, Madalene C. Y. (1987). "Congenital Smooth-Muscle Hamartoma". International Journal of Dermatology. 26 (7). Wiley: 448–452. doi:10.1111/j.1365-4362.1987.tb00589.x. ISSN 0011-9059. PMID 3654038. S2CID 7812091.
- ^ Metzker, A.; Amir, J.; Rotem, A.; Merlob, P. (1984). "Congenital Smooth Muscle Hamartoma of the Skin". Pediatric Dermatology. 2 (1). Wiley: 45–48. doi:10.1111/j.1525-1470.1984.tb00441.x. ISSN 0736-8046. PMID 6504777. S2CID 263416250.
- ^ a b Raboudi, Asma; Litaiem, Noureddine (2023-06-26). "Congenital Smooth Muscle Hamartoma". StatPearls Publishing. PMID 31424772. Retrieved 2024-02-17.
- ^ a b Koizumi; Kodama; Tsuji; Matsumura; Nabeshima; Ohkawara (1999). "CD34-positive dendritic cells are an intrinsic part of smooth muscle hamartoma". British Journal of Dermatology. 140 (1). Oxford University Press (OUP): 172–174. doi:10.1046/j.1365-2133.1999.02633.x. ISSN 0007-0963. PMID 10215795. S2CID 28839250.
- ^ García-Gavín, Juan; Pérez-Pérez, Lidia; Allegue, Francisco; Pérez-Pedrosa, Alberto; Ortíz-Rey, Jose Antonio; Zulaica, Ánder (2012-05-01). "Multiple congenital familial smooth muscle hamartoma in two siblings". Dermatology Online Journal. 18 (5). doi:10.5070/D39N52G204. ISSN 1087-2108.
- ^ Janicke, Elise C.; Nazareth, Michael R.; Rothman, Ilene L. (2014-01-03). "Generalized Smooth Muscle Hamartoma with Multiple Congenital Anomalies without the "Michelin Tire Baby" Phenotype". Pediatric Dermatology. 31 (6). Wiley: 731–733. doi:10.1111/pde.12280. ISSN 0736-8046. PMID 24383769. S2CID 39284436.
- ^ a b Prendiville, Julie; Esterly, Nancy B. (1987). "Congenital smooth muscle hamartoma". The Journal of Pediatrics. 110 (5). Elsevier BV: 742–744. doi:10.1016/s0022-3476(87)80015-x. ISSN 0022-3476. PMID 3572626.
- ^ a b Truhan, A. P. (1985-09-01). "Hypertrichotic skin-colored patches in an infant. Congenital smooth-muscle hamartoma (CSMH)". Archives of Dermatology. 121 (9). American Medical Association (AMA): 1997, 1200–1. doi:10.1001/archderm.121.9.1997. ISSN 0003-987X. PMID 4037849.
- ^ Huffman, D W; Mallory, S B (June 1989). "Congenital smooth muscle hamartoma". American Family Physician. 39 (6): 117–120. PMID 2729037.
- ^ D'Addario, Stephen F.; Morgan, Michael; Talley, Lori; Smoller, Bruce R. (2002-07-25). "h-Caldesmon as a specific marker of smooth muscle cell differentiation in some soft tissue tumors of the skin". Journal of Cutaneous Pathology. 29 (7). Wiley: 426–429. doi:10.1034/j.1600-0560.2002.290707.x. ISSN 0303-6987. PMID 12139638. S2CID 22091736.
Further reading
[edit]- Schmidt, Christopher S; Bentz, Michael L (2005). "Congenital Smooth Muscle Hamartoma: The Importance of Differentiation From Melanocytic Nevi". Journal of Craniofacial Surgery. 16 (5). Ovid Technologies (Wolters Kluwer Health): 926–929. doi:10.1097/01.scs.0000181049.99071.23. ISSN 1049-2275. PMID 16192884.
- Copi, Luana Rocco Pereira; Peraro, Thaís de Freitas; Copi, Igor; Caldas, Adriana Cristina (2019). "Congenital smooth muscle hamartoma". Anais Brasileiros de Dermatologia. 94 (3). FapUNIFESP (SciELO): 376–377. doi:10.1590/abd1806-4841.20198249. ISSN 1806-4841. PMID 31365679.