Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report

Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report Publisher Pubmed

Aslani N^{1, 2} ; Abtahinaeini B^{3, 4} ; Rastegarnasab F⁵ ; Derakhshan M⁶ ; Tavousi E⁷ ; Mehraein K⁵

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1. Pediatric Rheumatology Society of Iran, Tehran, Iran
2. Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran
3. Pediatric Dermatology Division of Department of Pediatrics, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
4. Skin Diseases and Leishmaniasis Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
5. Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran
6. Department of Pathology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
7. Department of Pediatrics, Imam Hossein Hospital, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Pediatric Dermatology Published:2024

Abstract

SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder. © 2024 Wiley Periodicals LLC.

Style	Citing Format
MLA	Aslani N, et al.. "Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report." Pediatric Dermatology, vol. 41, no. 5, 2024, pp. 888-892.
APA	Aslani N, Abtahinaeini B, Rastegarnasab F, Derakhshan M, Tavousi E, Mehraein K (2024). Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report. Pediatric Dermatology, 41(5), 888-892.
Chicago	Aslani N, Abtahinaeini B, Rastegarnasab F, Derakhshan M, Tavousi E, Mehraein K. "Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report." Pediatric Dermatology 41, no. 5 (2024): 888-892.
Harvard	Aslani N et al. (2024) 'Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report', Pediatric Dermatology, 41(5), pp. 888-892.
Vancouver	Aslani N, Abtahinaeini B, Rastegarnasab F, Derakhshan M, Tavousi E, Mehraein K. Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report. Pediatric Dermatology. 2024;41(5):888-892.
BibTex	@article{ author = {Aslani N and Abtahinaeini B and Rastegarnasab F and Derakhshan M and Tavousi E and Mehraein K}, title = {Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report}, journal = {Pediatric Dermatology}, volume = {41}, number = {5}, pages = {888-892}, year = {2024} }
RIS	TY - JOUR AU - Aslani N AU - Abtahinaeini B AU - Rastegarnasab F AU - Derakhshan M AU - Tavousi E AU - Mehraein K TI - Combination of Four Features of Slc29a3 Spectrum Disorder in a Child: A Case Report JO - Pediatric Dermatology VL - 41 IS - 5 SP - 888 EP - 892 PY - 2024 ER -

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