Pilomatrixoma (PTR)

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MedlinePlus Genetics: ⁴² Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.

MalaCards based summary: Pilomatrixoma, also known as pilomatricoma, is related to epidermoid cysts and dermatofibrosarcoma protuberans. An important gene associated with Pilomatrixoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include skin, colon and breast, and related phenotypes are pilomatrixoma and subcutaneous nodule

GARD: ¹⁹ Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other symptoms (isolated). Rarely, Pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). The exact underlying cause is not well understood; however, somatic changes in the CTNNB1 gene are found in most isolated Pilomatrixomas. Rarely, Pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic signs and symptoms of the associated condition.

Orphanet: ⁵⁸ Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

OMIM®: ⁵⁷ Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018). (132600) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ Common benign skin tumor.

Wikipedia: ⁷⁵ Pilomatricoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively... more...

Clinical features from OMIM®:

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