Multiple familial trichoepithelioma

Multiple familial trichoepithelioma

Multiple familial trichoepithelioma (also known as "Brooke–Spiegler syndrome" and "Epithelioma adenoides cysticum") is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.[1]:672

Types include:

Type OMIM Gene Locus
MFT1 601606 CYLD 16q12-q13
MFT2 612099  ? 9p21

See also

References

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
Hair

Pilomatrixoma/Malignant pilomatricoma · Trichoepithelioma (Multiple familial trichoepithelioma, Solitary trichoepithelioma, Desmoplastic trichoepithelioma, Generalized trichoepithelioma) · Trichodiscoma · Trichoblastoma · Fibrofolliculoma · Trichilemmoma · Trichilemmal carcinoma · Giant solitary trichoepithelioma · Trichofolliculoma · Trichoadenoma

Hamartoma: Basaloid follicular hamartoma · Folliculosebaceous cystic hamartoma · Folliculosebaceous-apocrine hamartoma

Isthmicoma · Fibrofolliculoma · Perifollicular fibroma · Birt–Hogg–Dubé syndrome
Nails

M: SKA

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug(D10)
v · translation and posttranslational modification
Translation
Posttranslational modification

E1: X-linked spinal muscular atrophy 2

E3: Johanson–Blizzard syndrome · Von Hippel–Lindau disease · 3-M syndrome · Angelman syndrome

Deubiquitinating enzyme: Machado–Joseph disease · Aneurysmal bone cyst · Multiple familial trichoepithelioma 1
Other
see also genetic translation, posttranslational modification
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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