Clinical experience of observation and tactics of management of a patient with ectodermal angydrotic dysplasia

Cover Page


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

The concept of “ectodermal dysplasias” covers a group of rare hereditary developmental anomalies that have a variety of phenotypic variants, but are characterized by common signs of underdevelopment or abnormal formation of organs and tissues derived from the ectodermal layer (skin and its derivatives - nails, hair, teeth, nervous system and sensory organs) ... Approximately 25% of ectodermal dysplasias known to date are inherited in an autosomal dominant or autosomal recessive manner; in other cases, the mode of inheritance is unclear. The syndrome is characterized by a wide range of clinical manifestations and may include additional symptoms of damage to other ectodermal, mesodermal, and endodermal structures. Ectodermal anomalies are a manifestation of disturbances in spatial-temporal coordination during the development of the epidermis. They involve genes such as EGF (epidermal growth factor), ED1 (ectodisplasin), EDAR (anhydrotic receptor ectodysplasin 1) and others that regulate the activity of genes involved in epidermal morphogenesis by activating or suppressing transcription factors (in particular, pb3; Koster). So far, only about 20% of genes have been identified that are responsible for about 200 ectodermal dysplasias of various symptoms and severity. This article describes the clinical observation of a patient with a rare disease - ectodermal anhydrotic dysplasia. The literature data on the clinical features of the course of this dermatosis, as well as the features of the course in this patient are presented.

Full Text

Restricted Access

About the authors

Elena Y. Startseva

Chelyabinsk Regional Clinical Dermatovenereology

Email: hron_derm@chokkvd74.ru
ORCID iD: 0000-0003-3987-6176
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048

Olga V. Bobrova

Chelyabinsk Regional Clinical Dermatovenereology

Email: frantseva.olga@list.ru
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048

Olga I. Letyaeva

South-Ural State Medical University

Email: olga-letyaeva@yandex.ru
ORCID iD: 0000-0002-9085-6229
SPIN-code: 3312-3150
Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092

Oleg R. Ziganshin

Chelyabinsk Regional Clinical Dermatovenereology; South-Ural State Medical University

Email: ziganshin_oleg@mail.ru
ORCID iD: 0000-0002-5857-0319
SPIN-code: 5339-2533

MD, Dr. Sci. (Med.)

Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048; 64 Vorovskogo st., Chelyabinsk 454092

Ksenia K. Zakomoldina

South-Ural State Medical University

Author for correspondence.
Email: ksinja@mail.ru
ORCID iD: 0000-0003-4699-9465

Clinical Resident

Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092

References

  1. Galonskii VG, Radkevich AA, Shushakova AA, Tumshevits VO. Ectodermal dysplasia: characteristic clinical signs and methods of dental rehabilitation. Siberian Medical Journal. 2011;26(2):21–27. (In Russ).
  2. Ramraje SN, Wasnik M, Momin YA. Anhidrotic ectodermal dysplasia – a report of two cases. Bombay Hospital Journal. 2009;5(12):121–129.
  3. Heger PG. Children’s dermatology. Translated from German ed. by AA Kubanov, AN Lvov. Moscow: Izdatel’stvo Panfilova; BINOM. Laboratoriya znanii; 2013. 648 р. (In Russ).
  4. Kozlova SI, Semanova E, Demikova NS, Blinnikova OE. Hereditary syndromes and medical-genetic counseling: a reference book. Leningrad : Meditsina; 1987. Р. 261–262. (In Russ).
  5. Ivanova IN, Serdyukova EA, Ikonnikova TI. Anhydrotic ectodermal dysplasia. Russian Journal of Skin and Venereal Diseases. 2012;(3):17–19. (In Russ).
  6. Kozlova SI, Demikova NS. Hereditary syndromes and medical-genetic counseling: atlas-reference. Moscow: Tovarishchestvo nauch. izdanii KMK, Avtorskaya akademiya; 2007. Р. 308–309. (In Russ).
  7. Mironova OB. Sequencing as a method for detecting mutations of the gene encoding ectodysplasin-A in the diagnosis of the X-linked form of anhydrotic ectodermal dysplasia. Prikladnye informatsionnye aspekty meditsiny. 2017;20(4):14–17. (In Russ).
  8. Zelenova MA, Vorsanova SG, Yurov YuB, et al. Duplication of the EDA gene in a boy with autism spectrum disorder and developmental delay: a molecular cytogenetic, bioinformatic, and psychological study of a rare genomic pathology. International Journal of Applied and Fundamental Research. 2017;(7-1):97–101 (In Russ).
  9. Lingling H, Williams MS, Spritz RA. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Am J Hum Genet. 1998;62(5):1102–1106. doi: 10.1086/301839
  10. Torgashina AG, Firsova IV. Symptomocomplex of ectodermal dysplasia in the clinic of dentistry. Bulletin of Medical Internet Conferences. 2013;3(3):745–747. (In Russ).
  11. Belyakov YuA. Hereditary diseases and syndromes in dental practice. Moscow : Ortodent-Info; 2000. 294 р. (In Russ).
  12. Pipa VA, López AM, González GM, et al. Treatment with removable prosthesis in hypohidroticectodermal dysplasia. A clinical case. Med Oral Patol Oral Cir Bucal. 2008;13(2):119–123.
  13. Olisova OYu, Vladimirova EV, Babushkin AM. The skin and the sun. Russian Journal of Skin and Venereal Diseases. 2012;15(6):57–62. (In Russ).
  14. Kominek Ya, Toman Ya, Rozkovtsova E. Pediatric dentistry. Praga : Gosudarstvennoe izdatel’stvo meditsinskoi literatury; 1968. Р. 417–418. (In Russ).

Supplementary files

Supplementary Files
Action
1. Fig. 1. Typical patient appearance: a face with a prominent forehead, superciliary and zygomatic arches, periorbital dystrophy and pigmentation, protruding large auricles (Satyr's ears), a saddle nose, full inverted lips.

Download (151KB)
2. Fig. 2. Sparse, thin, dull, discolored or slightly pigmented hair.

Download (186KB)
3. Fig. 3. On the palms, foci of lichenification were determined, an increase in the skin pattern against a background of pronounced dryness.

Download (111KB)
4. Fig. 4. Symptoms of atopic dermatitis with typical localization, itching, lichenification, scratching, dyschromia.

Download (101KB)

Copyright (c) 2021 Eco-Vector



This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies