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Items: 5

1.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
2.

Pain

MedGen UID:
776584
Concept ID:
C2364139
Finding
3.

McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating mutation of GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous additional tissues may be affected. Café-au-lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to a severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity. [from NCBI]

MedGen UID:
69164
Concept ID:
C0242292
Disease or Syndrome
4.

Allodynia

Pain due to a stimulus that does not normally provoke pain. [from HPO]

MedGen UID:
105350
Concept ID:
C0458247
Finding
5.

Skin Manifestations

Dermatologic disorders attendant upon non-dermatologic disease or injury. [from MeSH]

MedGen UID:
52366
Concept ID:
C0037285
Sign or Symptom
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