Hidden by the hair - a precocious puberty case report
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v29.i1.15113Keywords:
café au lait skin spots, dysplasia, McCune-Albright syndrome, polyostotic fibrous, precocious pubertyAbstract
McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of six years old. Besides transitory follicular cysts and advanced bone age, no other changes were found. Diagnosis was only established after brain magnetic resonance imaging showed fibrous dysplasia involving left craniofacial bones. The girl’s parents later mentioned that she had multiple café au lait skin spots on the scalp since birth, disclosing how the key diagnostic sign had been covered by the child’s hair.
MAS is a rare disorder and diagnosis depends on a high index of suspicion. CAL skin spots are generally the first manifestation, but can easily go unnoticed. Additionally, PFD may only affect some bones, like craniofacial.
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References
Raus I, Coroiu RE. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report. Clujul Med [Internet]. 2016; 89:559.
Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis [Internet]. 2008; 3:12.
Lourenco R, Dias P, Gouveia R, Sousa AB, Oliveira G. Neonatal McCune-Albright syndrome with systemic involvement: a case report. J Med Case Rep [Internet]. 2015; 9:189.
Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis [Internet]. 2012; 7:S4.
Shaw N. McCune Albright Syndrome CR. ESPE Summer Sch. 2016;1–18.
Aragão ALA, Silva IN. Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report. Int J Pediatr Endocrinol [Internet]. 2010; 2010:432060.
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