Long-Term Follow-Up of a Case of Cheek Hyperpigmentation Associated with McCune-Albright Syndrome Treated with Q-Switched Ruby Laser

Ozawa, Toshiyuki; Tateishi, Chiharu; Shirakawa, Makiko; Murakami, Emi; Ishii, Masamitsu; Harada, Teruichi

doi:10.1111/j.1524-4725.2010.01864.x

Cited by 7 publications

(6 citation statements)

References 18 publications

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“…Somatostatin analogues such as pegvisomant are used to treat excess growth hormone, the aromatase inhibitor letrozole combined with leuprolide or testosterone receptor antagonist is used for precocious puberty, and oral phosphorus and calcitriol supplementation is used for hyperthyroidism. 177,181 In addition to medical treatments, several surgeries, including thyroidectomy and hypophysectomy, have been reported as a potential option. 168,182 Treatment for skin hyperpigmentation in MAS patients is not routinely conducted, although laser therapy can be applied with satisfactory results.…”

Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

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Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases.

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Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

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“…Attempts to bleach areas of hyperpigmentation usually leave an area of under pigmentation, which is usually unsatisfying to the patient. A single report of the efficacy of Q-switched ruby laser in the treatment of the café-au-lait spots of MAS has been reported [12], but further evidence of efficacy is necessary before such a treatment can be routinely recommended.…”

Section: Café-au-lait Spotsmentioning

confidence: 99%

“…Therefore, it is not unusual for girls to present initially to an emergency department or primary care clinic and have the treating physicians fail to include MAS in the differential diagnosis. As some of the clinical and radiographic findings overlap with those of juvenile granulosa cell tumors, girls with MAS sometimes end up undergoing unnecessary oophorectomy for a presumed ovarian tumor [12]. Ideally, vaginal bleeding in a prepubertal girl should always prompt consultation with a pediatric endocrinologist so that, in the case of MAS, unneeded loss of the ovary can be prevented.…”

Section: Precocious Pubertymentioning

confidence: 99%

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

Collins

Singer

Eugster

2012

Orphanet Journal of Rare Diseases

223

256

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Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues.The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.

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“…The only medications that have shown any efficacy in treating FD were the bisphosponates [19]. Café-au-lait spots comprise another of the major hallmarks and are typically the first manifestation of MAS, usually appearing either at or shortly after birth, unilaterally and not crossing the midline [5,23]. These spots result of gsp-bearing melanocytes in which the mutation brings cAMP-mediated tyrosinase gene activation and melanin production [5].…”

Section: Discussionmentioning

confidence: 99%

Unusual Breast Tumor in a Patient With McCune Albright Syndrome: A Case Report and Review of the Literature

Marques¹,

Domingues²,

Js³

et al. 2014

MCR

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Introduction: McCune Albright syndrome (MAS) is a rare disorder classically defined by the triad polyostotic fibrous dysplasia (FD), café-aulait pigmentation of the skin and precocious puberty (PP). Other endocrinopathies can be associated with MAS and nonendocrine tissues such as breast may be involved. Case report: A 56-year-old woman was referred to our institution 20 years ago to treat a fast-growing infiltrative and ulcerative breast lesion, suspected as malignant. It was prompt operated and the 7 cm-tumor was classified as a bening "breast tubular adenoma". From the anamnesis it was evident café-au-lait spots (present soon after birth) and multiple osteoarticular manifestations from the age of 13: pain and functional impotency of the left limb, past femoral fracture, kyphoscoliosis and facial asymmetry. The patient had also episodes of tachydysrhythmias. Laboratorial tests revealed hypophosphatemia, hyperphosphaturia, elevation of serum bone markers and primary hyperthyroidism. The imaging studies showed multiple FD areas and several bone deformities. The most frequent GNAS somatic mutation was not detected in four different types of tissue studied. The patient was managed with bisphosphonates, calcitriol and oral phosphate, with significant improvement. The hyperthyroidism was treated with radioiodine. Discussion: We reported a MAS case with multiple endocrine and non-endocrine disease manifestations. The osseous disease is commonly the most prominent feature. Our patient had a unique fast-growing and infiltrative breast benign neoplasia, emphasizing the possible association of breast disorders in this setting. Genetic testing, not routinely available, may contribute little to the diagnosis and to the patient management.

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Long-Term Follow-Up of a Case of Cheek Hyperpigmentation Associated with McCune-Albright Syndrome Treated with Q-Switched Ruby Laser

Abstract: The authors have indicated no significant interest with commercial supporters.

Cited by 7 publications

References 18 publications

Dental-craniofacial manifestation and treatment of rare diseases

Dental-craniofacial manifestation and treatment of rare diseases

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

Unusual Breast Tumor in a Patient With McCune Albright Syndrome: A Case Report and Review of the Literature

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