Mccune-albright syndrome Q78.10

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Albright-McCune-Sternberg Syndrome; Albright Syndrome; MAS; OMIM 174800; polyostotic fibrous dysplasia

History
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McCune and Bruch 1936; Albright, Butler and Hampton 1937; Lichtenstein 1938

Definition
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Very rarely occurring syndrome with a triad of fibrous dysplasia, pubertas praecox and café-au-lait spots.

Etiopathogenesis
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Sporadically occurring genetic mosaics (postzygotic gene mutation in one or more somatic cells) of the "Guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1" gene (GNAS1 gene; gene locus: 20q13.2)

Manifestation
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Mainly congenital or occurring during the first years of life. Mainly manifested in the female sex.

Clinical features
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Integument: Mostly characteristic from birth, evenly milky coffee-coloured, band-shaped or oval, sharply defined, hyperpigmentation of skin and mucous membranes following the Blaschko lines. The spots are usually only present in small numbers, at the edges mostly irregularly fissured ("coast-of-main stains"), often also half-sided, sharply bordered to the midline (cutaneous mosaic). This distinguishes them from the multiple, rounded café-au-lait stains that occur in peripheral neurofibromatosis.

Extracutaneous manifestations: Pubertas praecox with premature epiphyseal closure in female patients, consecutive dwarfism, acromegaly.

Monotopic or polytopic fibrous dysplasia with dilution of the cortex and fibrous replacement of the bone marrow. As a consequence: tendency to fractures, scoliosis, etc.

Multiple endocrine disorders with autonomy of the functional end organs, e.g. hyperthyroidism, Cushing's syndrome, hyperparathyroidism.

Differential diagnosis
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General therapy
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Collaboration with the orthopaedic surgeon and internist / endocrinologist.

External therapy
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  • Avoidance of direct sunlight and consistent textile and physical/chemical sun protection. Light protection agents including the UVA range are recommended.
  • If necessary, try depigmentation with bleaching agents such as hydroquinone (e.g. Pigmanorm) or with 20% azelaic acid (e.g. Skinoren).

    Remember! Depigmentation with hydroquinone is irreversible and only starts after several months!

  • Alternatively cover with camouflage (e.g. Dermacolor, R025 ). Therapy trials with artificial tanning agents are also available (e.g. Vitadye), reapply every 2-3 days.

Literature
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  1. Albright F, Butler AM, Hampton AO (1937) Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. N Engl J Med 216: 727-747
  2. Angelousi A et al (2015) McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue. Hormones (Athens) 14:447-450
  3. Brillante B et al (2015) McCune-Albright Syndrome: An Overview of Clinical Features. J Pediatrics Nur 30:815-817
  4. Diercks K et al (1996) Primary cutaneous osteoma in hereditary Albright osteodystrophy. dermatologist 47: 673-675
  5. Jhala DN et al (2003) Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome: a case report emphasizing the cytological and cytogenetic findings. Hum Pathol 34: 1354-1357
  6. Leet AI et al (2004) Fracture Incidence in Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome. J Bone Miner Res 19: 571-577
  7. Lichtenstein L (1938) Polyostotic fibrous dysplasia. Arch Surge 36: 874-898
  8. Lichtenstein L, Jaffe HL (1942) Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Path 33: 777-816
  9. McCune DJ, Fracture H (1936) Osteodystrophia Fibrosa: Report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, with a review of the literature. Am J Dis Child 54: 806-848
  10. Wagner P et al (2002) Fibrous dysplasia: differential diagnosis from Paget's disease. German Med Weekly 127: 2264-2268

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020