Pilomatricoma
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Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumour 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 tumour grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumour, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).
Descrição
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumour 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 tumour grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumour, 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 tumours 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 tumour (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 tumour has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterised 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 tumours.
Padrões de herança
The source lists the following possible inheritance patterns: Pattern unknown. More than one pattern can apply in different cases.
Related genes
Other names
Benign pilomatricoma
Benign pilomatrixoma
Calcifying epithelioma of Malherbe
Malherbe calcifying epithelioma
Pilomatrixoma
Leitura adicional e referências
- Pilomatricoma; MedlinePlus, National Library of Medicine.
- Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet. 1999 Apr;21(4):410-3. doi: 10.1038/7747.
- Julian CG, Bowers PW. A clinical review of 209 pilomatricomas. J Am Acad Dermatol. 1998 Aug;39(2 Pt 1):191-5. doi: 10.1016/s0190-9622(98)70073-8.
- Lan MY, Lan MC, Ho CY, Li WY, Lin CZ. Pilomatricoma of the head and neck: a retrospective review of 179 cases. Arch Otolaryngol Head Neck Surg. 2003 Dec;129(12):1327-30. doi: 10.1001/archotol.129.12.1327.
- Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH. Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol. 2005 Feb;32(2):148-57. doi: 10.1111/j.0303-6987.2005.00267.x.
- Moreno-Bueno G, Gamallo C, Perez-Gallego L, Contreras F, Palacios J. beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br J Dermatol. 2001 Oct;145(4):576-81. doi: 10.1046/j.1365-2133.2001.04455.x.
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