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
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
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
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]
^
abKoizumi; 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.
ISSN0007-0963.
PMID10215795.
S2CID28839250.
^
abTruhan, 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.
ISSN0003-987X.
PMID4037849.
^Huffman, D W; Mallory, S B (June 1989). "Congenital smooth muscle hamartoma". American Family Physician. 39 (6): 117–120.
PMID2729037.
^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.
ISSN0303-6987.
PMID12139638.
S2CID22091736.
Further reading
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.
ISSN1049-2275.
PMID16192884.