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[McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back].
Ann Dermatol Venereol. 2016 Jan; 143(1):21-6.AD

Abstract

BACKGROUND

McCune-Albright syndrome is a rare sporadic disease defined by the triad of café-au-lait spots, fibrous dysplasia of bone and endocrine disorder. Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs.

PATIENTS AND METHODS

A four-year-old girl was seen in our clinic due to the presence of congenital café-au-lait spots on her back. These macules were irregular, with jagged borders, and were disposed in a broad band on the left shoulder and in the lumbar region, in a Blaschko-linear pattern. McCune-Albright syndrome was immediately suspected, despite the absence of other signs of the disease. Genetic assessment carried out a year and a half later confirmed the diagnosis, with arginine substitution at position 201 of Gs alpha protein. The child was still asymptomatic. Regular radiographic and endocrine assessments remained normal for three years until the sudden appearance at the age of seven years of precocious puberty and radiographic evidence of fibrous dysplasia of the right hand.

DISCUSSION

Café-au-lait spots are very common in the general population. An underlying genetic disorder should only be sought when such spots are multiple. However, in the case of McCune-Albright syndrome, it is the irregular borders and the Blaschko-linear arrangement of the spots in broad irregular bands that are pathognomonic, reflecting as they do the genetic mosaicism characteristic of this disease.

Authors+Show Affiliations

Service de dermatologie, hôpital civil, CHU de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.Service de pédiatrie, hôpital de Hautepierre, CHU de Strasbourg, avenue Molière, 67000 Strasbourg, France.Laboratoire de biologie moléculaire et hormonologie, CHU de Montpellier, 34295 Montpellier cedex, France.Service de dermatologie, hôpital civil, CHU de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France. Electronic address: dlipsker@gmail.com.

Pub Type(s)

Case Reports
Journal Article

Language

fre

PubMed ID

26610360

Citation

Jung, A-J, et al. "[McCune-Albright Syndrome Revealed By Blaschko-linear Café-au-lait Spots On the Back]." Annales De Dermatologie Et De Venereologie, vol. 143, no. 1, 2016, pp. 21-6.
Jung AJ, Soskin S, Paris F, et al. [McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back]. Ann Dermatol Venereol. 2016;143(1):21-6.
Jung, A. J., Soskin, S., Paris, F., & Lipsker, D. (2016). [McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back]. Annales De Dermatologie Et De Venereologie, 143(1), 21-6. https://doi.org/10.1016/j.annder.2015.10.585
Jung AJ, et al. [McCune-Albright Syndrome Revealed By Blaschko-linear Café-au-lait Spots On the Back]. Ann Dermatol Venereol. 2016;143(1):21-6. PubMed PMID: 26610360.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back]. AU - Jung,A-J, AU - Soskin,S, AU - Paris,F, AU - Lipsker,D, Y1 - 2015/11/25/ PY - 2015/02/22/received PY - 2015/05/15/revised PY - 2015/10/02/accepted PY - 2015/11/28/entrez PY - 2015/11/28/pubmed PY - 2016/12/15/medline KW - Blaschko-linear KW - Blaschko-linéaire KW - Café-au-lait spot KW - McCune-Albright syndrome KW - Syndrome de McCune-Albright KW - Tache café-au-lait SP - 21 EP - 6 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 143 IS - 1 N2 - BACKGROUND: McCune-Albright syndrome is a rare sporadic disease defined by the triad of café-au-lait spots, fibrous dysplasia of bone and endocrine disorder. Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs. PATIENTS AND METHODS: A four-year-old girl was seen in our clinic due to the presence of congenital café-au-lait spots on her back. These macules were irregular, with jagged borders, and were disposed in a broad band on the left shoulder and in the lumbar region, in a Blaschko-linear pattern. McCune-Albright syndrome was immediately suspected, despite the absence of other signs of the disease. Genetic assessment carried out a year and a half later confirmed the diagnosis, with arginine substitution at position 201 of Gs alpha protein. The child was still asymptomatic. Regular radiographic and endocrine assessments remained normal for three years until the sudden appearance at the age of seven years of precocious puberty and radiographic evidence of fibrous dysplasia of the right hand. DISCUSSION: Café-au-lait spots are very common in the general population. An underlying genetic disorder should only be sought when such spots are multiple. However, in the case of McCune-Albright syndrome, it is the irregular borders and the Blaschko-linear arrangement of the spots in broad irregular bands that are pathognomonic, reflecting as they do the genetic mosaicism characteristic of this disease. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/26610360/[McCune_Albright_syndrome_revealed_by_Blaschko_linear_café_au_lait_spots_on_the_back]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0151-9638(15)01139-4 DB - PRIME DP - Unbound Medicine ER -