Pilomatrixoma (PTR)

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Disease Ontology 12 DOID:5374 OMIM® 57 132600 KEGG 36 H00947 MeSH 44 D018296 NCIt 50 C7368 SNOMED-CT 67 274901004 MESH via Orphanet 45 D018296

ICD10 via Orphanet 33 D23.3 D23.4 D23.6 UMLS via Orphanet 71 C0206711 Orphanet 58 ORPHA91414 MedGen 41 C0206711 SNOMED-CT via HPO 68 124975008 44155009 EFO 17 EFO_0009082 UMLS 70 C0206711

MedlinePlus Genetics : ⁴³ 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 pilomatrix carcinoma and syringocystadenoma papilliferum. An important gene associated with Pilomatrixoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Wnt signaling pathway and Focal adhesion. Affiliated tissues include skin, colon and breast, and related phenotype is pilomatrixoma.

GARD : ²⁰ 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 signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes ( mutations ) 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. They are usually treated with surgical excision.

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 20-May-2021)

KEGG : ³⁶ Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.

UniProtKB/Swiss-Prot : ⁷² Pilomatrixoma: Common benign skin tumor.

Wikipedia : ⁷³ Pilomatricoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively... more...

Clinical features from OMIM®:

132600 (Updated 20-May-2021)

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