Results 51 to 60 of about 6,016 (235)
Clinical Case of Mccune-Albright-Braitsev Syndrome (MAS)
Медицинский вестник Юга России, 2023 The presented clinical case describes orphan disease known as MAS with manifested symptoms of precocious puberty, recurrent ovarian cysts, fibrous dysplasia, café-au-lait skin pigmentation and abnormal cardiac conduction. The pathogenesis is based on the
F. V. Valeeva +4 more
doaj +1 more source
Evolução da displasia fibrosa óssea na síndrome de McCune Albright [PDF]
, 1999 McCune Albright syndrome is a rare disorder characterized by polyostotic fibrous dysplasia, café-au-lait spots and some endocrine hyperfunction, mostly precocious puberty.
Dias-da-Silva, Magnus Régios [UNIFESP] +3 more
core +2 more sources
Acromegaly with hypophosphataemia: McCune-Albright syndrome [PDF]
BMJ Case Reports, 2017 A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis—suggesting acrogigantism. He had facial asymmetry, wind-swept
Rimesh Pal +3 more
openaire +3 more sources
Treatment of Peripheral Precocious Puberty [PDF]
, 2015 There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual.
Eugster, Erica A., Schoelwer, Melissa
core +1 more source
Oral Pigmentation in McCune-Albright Syndrome [PDF]
JAMA Dermatology, 2014 The differential diagnosis for oral lentigines includes several syndromes with important associated systemic findings. McCune-Albright syndrome (MAS), a mosaic condition associated with café au lait pigmentation, is not typically considered a mucosal lentiginosis syndrome.
Michael T. Collins +3 more
openaire +3 more sources
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, EarlyView.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Fulvestrant treatment of precocious puberty in girls with McCune-Albright syndrome [PDF]
, 2012 BACKGROUND: McCune-Albright Syndrome (MAS) is usually characterized by the triad of precocious puberty (PP), fibrous dysplasia, and café au lait spots. Previous treatments investigated for PP have included aromatase inhibitors and the estrogen receptor ...
Charles Sultan +6 more
core +1 more source
Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 ( PDE11A) [PDF]
, 2014 We present the pathologic findings in the adrenal glands of 4 patients, aged 10 to 38 years, with Cushing syndrome and germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4. The gene is expressed in the adrenal cortex and
Bertherat, J. +3 more
core +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source
McCune Albright Syndrome: A Diagnosis to be Kept in Mind [PDF]
, 2011 Precocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis.
Barros, L, Bernardo, MJ, Sousa, F
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