eMedicine Specialties > Dermatology > Pediatric Diseases

Albright Syndrome: Treatment & Medication

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Coauthor(s): D Stanton Whittaker Jr, MD, Consulting Staff, Boone Dermatology Clinic
Contributor Information and Disclosures

Updated: Mar 13, 2008

Treatment

Medical Care

Medical treatment is only partially effective and transsphenoidal surgery remains difficult secondary to massive thickening of the skull base. Radiotherapy is contraindicated because of the possibility of sarcomatous transformation.21 Their puberty does not generally respond to gonadotropic-releasing hormone agonists, and short-acting aromatase inhibitors have had limited effectiveness. Bromocriptine, cabergoline, and octreotide or a combination of these has demonstrated inconsistent results; pegvisomant, a GH receptor antagonist, is a possibility, although it has not yet been used as a treatment for MAS with GH pathology.21

  • Diagnosis and treatment require a high index of suspicion in any patient with characteristic CALMs and endocrine dysfunction or pathologic fractures.
  • Address symptomatic hyperthyroidism with supportive care such as oral or intravenous iodine, antithyroid agents, propranolol, and dexamethasone.
  • Address metabolic acidosis by correcting the underlying endocrine disorder and providing supportive care.
  • One study found that long-term bisphosphonate treatment had beneficial effects on the bone health of patients with MAS; the fracture rate and bone pain were reduced and radiological evidence of long bone pathology resolution was observed.25 However, another report described that bisphosphonate treatment of PFD in children with MAS did not arrest progressive bone pathology.26
  • Despite disappointing results in other trials, one study indicated gonadotropin-releasing hormone analogue therapy for children has had some success in girls with MAS.27
  • The third-generation aromatase inhibitor letrozole has had some success.28

Surgical Care

Ovarian cysts occur frequently in females with PPP with MAS.29 Surgery remains an option for the evaluation and treatment of cysts.

  • Laparoscopy minimizes surgical aggression and allows for the acquisition of tissue biopsy specimens for molecular analysis. Additionally, hyperestrogenism can be arrested with the excision of hyperactive ovarian tissue. In girls younger than 3 years, laparoscopy can be performed using the transumbilical laparoscopic ovarian cystectomy approach. In older females, traditional techniques are used.
  • The need for excision of hyperfunctional endocrine tissue is directed by the severity of the patient's endocrine imbalance and the efficacy of medical treatment.
  • En bloc resection and free metatarsal transfer have been used to treat fibrous dysplasia of the fourth metacarpal associated with MAS.30

Consultations

  • Endocrinologist consultation is indicated because patients may have multiple endocrine defects, which may require careful orchestration of treatment.
  • Orthopedist consultation is indicated for pathologic fractures.

Medication

A variety of medications may be required to correct various endocrine and metabolic derangements. Some of these include medroxyprogesterone acetate, testolactone, bromocriptine, propylthiouracil, ergocalciferol, and calcitonin. A qualified endocrinologist should conduct therapy.

Feuillan et al31 reported on a pilot study of letrozole treatment for precocious puberty in girls with the MAS. Bisphosphonate therapy may have a role in the treatment of fibrous dysplasia.32 Somatostatin analogs are useful in some, but not all, cases. The GH receptor antagonist pegvisomant can be useful in normalizing insulinlike growth factor-I levels.2

Hormones

Given to correct endocrine disorders associated with sexual precocity manifestations (98% of cases), such as pubarche, menarche, and thelarche.


Medroxyprogesterone (Provera)

Progestins stop endometrial cell proliferation, allowing organized sloughing of cells after withdrawal. Typically does not stop acute bleeding episode but produces normal bleeding episode following withdrawal.

Adult

10 mg PO qd; adjust to effect

Pediatric

Not recommended

May decrease effects of aminoglutethimide

Documented hypersensitivity; cerebral apoplexy; undiagnosed vaginal bleeding; thrombophlebitis; liver dysfunction

Pregnancy

X - Contraindicated; benefit does not outweigh risk

Precautions

Caution in asthma, depression, renal or cardiac dysfunction, or thromboembolic disorders


Testolactone (Teslac)

Synthetic peripheral aromatase inhibitor that blocks production of estradiol and estrone from testosterone and androstenedione.

Adult

250 mg PO qid; adjust to effect

Pediatric

Not established

Need to monitor INR closely in patients taking warfarin and possibly adjust dose

Documented hypersensitivity; males with breast cancer

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Monitor liver function; edema may develop in patients with congestive heart failure, liver, or renal insufficiency; may worsen hypertension; may exacerbate epilepsy and migraine

Ergot alkaloids

Some agents have dopaminergic properties that inhibit prolactin secretion.


Bromocriptine (Parlodel)

Semisynthetic ergot alkaloid derivative; strong dopamine D2-receptor agonist; partial dopamine D1-receptor agonist; indicated for amenorrhea/galactorrhea secondary to hyperprolactinemia in the absence of primary tumor.

Adult

10-40 PO mg/d; not to exceed 100 mg/d

Pediatric

Not established

Toxicity may increase with ergot alkaloids; amitriptyline, butyrophenones, imipramine, methyldopa, phenothiazines, and reserpine may decrease effects

Documented hypersensitivity; ischemic heart disease; peripheral vascular disorders

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in renal or hepatic disease

Antithyroid agents

Used in the palliative treatment of hyperthyroidism.


Propylthiouracil (PTU)

Derivative of thiourea that inhibits organification of iodine by thyroid gland. Blocks oxidation of iodine in thyroid gland, thereby inhibiting thyroid hormone synthesis; inhibits T4 to T3 conversion (advantage over other agents).

Adult

Initial dose: 300 mg/d PO divided tid
Severe hyperthyroidism: 600-1200 mg/d PO
Maintenance dosing: 100-150 mg PO divided tid

Pediatric

<6 years: Not established
6-10 years: 50-150 mg/d PO initially
>10 years: 150-300 mg/d PO initially
Alternatively, 5-7 mg/kg/d or 150-200 mg/m2/d PO divided q8h; subsequent dosing determined by response

PTU has antivitamin K activity; may potentiate activity of oral anticoagulants

Documented hypersensitivity; breastfeeding women

Pregnancy

D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus

Precautions

Monitor PT during therapy; may cause hypoprothrombinemia and bleeding; once symptoms of hyperthyroidism have resolved, lower maintenance dose if serum thyrotropin levels are elevated

Metabolic agents

Agents (eg, vitamin D) are indicated to correct deficiencies leading to hypoparathyroidism. Agents (eg, calcitonin) are indicated to treat hypercalcemia and prevent bone loss.


Ergocalciferol (Calciferol, Drisdol)

Stimulates absorption of calcium and phosphate from small intestine and promotes release of calcium from bone into blood.

Adult

625 mcg to 5 mg/d (25,000-200,000 U) PO

Pediatric

1.25-5 mg/d (50,000–200,000 U) PO

Colestipol, mineral oil, and cholestyramine may decrease absorption of ergocalciferol from small intestine; thiazide diuretics may increase effects of vitamin D

Documented hypersensitivity; hypercalcemia; malabsorption syndrome

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in impaired renal function, renal stones, heart disease, or arteriosclerosis


Calcitonin (Miacalcin, Osteocalcin)

Lowers elevated serum calcium level in patients with primary hyperparathyroidism. Expect a higher response when serum calcium levels are high. Onset of action is approximately 2 h following injection and activity lasts for 6-8 h. May lower calcium levels for 5-8 d by approximately 9% if given q12h. IM route is preferred at multiple injection sites with dose >2 mL.

Adult

4 IU/kg IM/SC q12h
Increase dose to 8 IU/kg q12h if response not satisfactory after 1-2 d and 8 IU/kg q6h if response remains unsatisfactory >2 d

Pediatric

Not established

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Hypocalcemia may occur; examine urine sediment during prolonged therapy

More on Albright Syndrome

Overview: Albright Syndrome
Differential Diagnoses & Workup: Albright Syndrome
Treatment & Medication: Albright Syndrome
Follow-up: Albright Syndrome
Multimedia: Albright Syndrome
References
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Further Reading

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Keywords

McCune-Albright syndrome, Albright's syndrome, café au lait macules, CALMs, cafe au lait macules, cafe-au-lait macules, polyostotic fibrous dysplasia, PFD, endocrine dysfunction, precocious puberty, MAS, PPP

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Optigenex Consulting fee Independent contractor

Coauthor(s)

D Stanton Whittaker Jr, MD, Consulting Staff, Boone Dermatology Clinic
D Stanton Whittaker Jr, MD is a member of the following medical societies: Phi Beta Kappa
Disclosure: Nothing to disclose.

Medical Editor

Eleanor E Sahn, MD, Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina
Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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