Ablepharon-macrostomia syndrome

Introduction. Ablepharon-macrostomia syndrome (AMS) — rare ectodermal dysplastic congenital disease. This syndrome ectodermal dysplasia due to genetic disorders includes malformations of skin, hair, nails, sweat glands, and teeth. AMS typical anomalies are mostly developed in the facial part of the skull and rarely in the internal organs. Characteristic lacks are or eyelid hypoplasia, oral defect (macrostomia), ear abnormalities, dry and rough skin, or excessive folds of skin, absence or sparse pieces of hair, delay intellectual and motor development, variable anomalies of mamillaae, genitalia, dactylion of the fingers and toes, short stature.

Aim: to consider, based on a clinical case, the effect of mutations in AMS on the formation of external genitalia.

Materials and methods. A description of a clinical case of AMS in a 10-year-old patient admitted to the gynecological department is presented. Since birth, the child has been diagnosed with AMS at the place of residence. The patient is observed by a neurologist, ophthalmologist, otolaryngologist, maxillofacial surgeon.

Results. Despite the characteristic clinical picture during external examination, difficulties may arise in the differential diagnosis for the gender due to the possible influence of mutations on the structure of the external genitalia.

Conclusion. It is quite difficult to diagnose this pathology. The clinical picture may be different, which is why it is so important to conduct genetic testing in doubtful cases. This method allows identifying point mutations.

Contributions:
Sibirskaya E.V., Sharkov S.M. — concept and design of the study;
Movsesian E.Kh., Kirillova Yu.A. — collection and processing of the material;
Movsesian E.Kh. — writing the text;
Sibirskaya E.V. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: May 30, 2023
Accepted: June 20, 2023
Published: August 31, 2023

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