|LETTER TO EDITOR
|Year : 2015 | Volume
| Issue : 4 | Page : 272-274
McCune-Albright syndrome with precocious puberty in a male
Jayakar Thomas, Mohammed Faizal, M Bhairavi, C Zohra Begum
Department of Dermatology, Sree Balaji Medical College, Chromepet, Chennai, Tamil Nadu, India
|Date of Web Publication||24-Sep-2015|
C Zohra Begum
Department of Dermatology, F6 Kalpana Flats, 42 Haridoss 2nd Street, Kolathur, Chennai - 600 099, Tamil Nadu
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Thomas J, Faizal M, Bhairavi M, Begum C Z. McCune-Albright syndrome with precocious puberty in a male. Indian J Paediatr Dermatol 2015;16:272-4
|How to cite this URL:|
Thomas J, Faizal M, Bhairavi M, Begum C Z. McCune-Albright syndrome with precocious puberty in a male. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Sep 19];16:272-4. Available from: http://www.ijpd.in/text.asp?2015/16/4/272/165674
McCune-Albright syndrome (MAS) is a rare heterogeneous genetic disorder caused by sporadic, postzygotic mutation. It is clinically characterized by a triad of Pigmentation (café-au-lait macule), polyostotic/monostotic fibrous dysplasia (FD) and precocious puberty (PP). , A full presentation is rare, and it is more common in females ,, who present with vaginal bleeding or spotting, accompanied by the development of breast tissue. We report a case of café-au-lait macule with craniofacial deformity in a male associated with PP.
A 3-year-old boy was brought to the skin clinic for abnormal appearance and skin changes by his mother. Examination revealed a diffuse pigmented skin lesion over the entire right side of the body, which was present since birth, facial asymmetry and megalophallus, with scrotal enlargement. There was no history of fluid-filled or verrucous lesions at the time of birth, or any bony swelling, history of fractures, epilepsy, delay in milestones, or any history suggestive of visual/hearing abnormalities. Dermatological examination revealed a large café-au-lait macule [Figure 1] with irregular margin seen predominantly on the right side of the body. The hair, nail, mucosa, teeth, palms, and soles were normal. Histopathological examination revealed an intact basal cell layer, with increased melanin pigment, there was no pigment incontinence or melanophages in the upper dermis [Figure 2]. Other investigations such as bone X-rays were normal, hormonal profile revealed a mild elevation in testosterone levels 22 ng/dl (Normal: 7-20 ng/dl), other hormones such as thyroid-stimulating hormone, growth hormone, adrenocorticotropic hormone, serum cortisol were within the normal range.
|Figure 1: A large café-au-lait macule with irregular margin seen predominantly on the right side of the body. Megalophallus with scrotal enlargement is also seen|
Click here to view
|Figure 2: Histopathology of skin (H and E, under high power view) to show that there was no pigment incontinence or melanophages in the upper dermis|
Click here to view
McCune-Albright syndrome is a rare genetic disease with an estimated prevalence range between 1/100,000 and 1/1,000,000. The pathogenesis involves somatic activating mutation of the gene encoding the alpha subunit of the stimulatory G protein in the bone marrow cells, resulting in locally increased stimulatory activity of adenylyl cyclase and cAMP. , The associated endocrinopathies and skin hyperpigmentation are due to this phenomenon.
McCune-Albright syndrome is most commonly confused with neurofibromatosis (NF), especially when a child presents with large café-au-lait macules (CALMs). CALMs in MAS have jagged borders (coast of Maine), whereas those in NF are smooth (coast of California). In NF multiple CALMS, axillary freckling, Lisch nodules on the iris and macromelanosomes in the melanocytes and keratinocytes of the pigmented and normal skin are present. In MAS, the signs and symptoms of either PP or FD usually account for the initial presentation. In girls with PP, it is vaginal bleeding or spotting, accompanied by the development of breast tissue, usually without the development of pubic hair. In boys, it can be bilateral (or unilateral) testicular enlargement with penile enlargement, scrotal rugae, body odor, pubic and axillary hair, and precocious sexual behavior. Incontinentia pigmenti is also another differential diagnosis for our case, but the histopathological examination reveals no basal cell degeneration or no melanophages in the upper dermis, also the skin lesion usually manifests as four cutaneous stages in IP namely, vesiculobullous, verrucous, linear hyperpigmented and atrophic lesions were not present in our case. Linear and whorled nevoid hypermelanosis which is characterized by streaky, hyperpigmented macules along the lines of Blaschko could also be considered as a differential, but the presence of facial asymmetry and megalophallus makes this diagnosis unlikely.
Our patient demonstrates a rare clinical association of PP (megalophallus) with café-au-lait macule in a male, because though it might theoretically be expected to affect girls and boys equally, PP in children with MAS is far more common in girls, in whom it is typically both the presenting feature as well as the one that ultimately leads to the diagnosis.
| References|| |
McCune DJ. Osteitis fibrosa cystica: The case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 1936;52:743-4.
Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas, of pigmentation, and endocrine dysfunction, with precocious puberty in females: Report of 5 cases. N Engl J Med 1937;216:727-46.
Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT. Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: A pilot study. J Clin Endocrinol Metab 2007;92:2100-6.
Weinstein LS. G(s) alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 2006;21 Suppl 2:P120- 4.
Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-95.
Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A 1992;89:5152-6.
Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, et al.
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 2000;15:120-8.
[Figure 1], [Figure 2]