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Focal Dermal Hypoplasia with Osteopathia Striata

BACKGROUND: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95%...

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Autores principales: Almashaqbeh, Shefa S., Aljammal, Diana S., Alharahsheh, Hend M., Alqudah, Samer F., Alkrimeen, Rana A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences of Bosnia and Herzegovina 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559906/
https://www.ncbi.nlm.nih.gov/pubmed/36313953
http://dx.doi.org/10.5455/medarh.2022.76.301-304
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author Almashaqbeh, Shefa S.
Aljammal, Diana S.
Alharahsheh, Hend M.
Alqudah, Samer F.
Alkrimeen, Rana A.
author_facet Almashaqbeh, Shefa S.
Aljammal, Diana S.
Alharahsheh, Hend M.
Alqudah, Samer F.
Alkrimeen, Rana A.
author_sort Almashaqbeh, Shefa S.
collection PubMed
description BACKGROUND: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95% feature de novo and 90% of these are females. Focal dermal hypoplasia is induced by a mutation in the PORCN gene. OBJECTIVE: The aim of this article is to present a case of a one-year-old girl child with multi-hypopigmented reticulated atrophic macules and patches grouped in linear mode at the lines of blaschko, skeleton abnormalities, umbilical hernia, developmental delay, hypoplastic nails, syndactyly and lobster claw deformity. CASE REPORT: A one-year-old girl child presented to the dermatology clinic with asymptomatic lesions since childhood with no improvement, with multi- hypopigmented skin lesions on the trunk and extremities since birth as linear erosions that heal gradually during few days, leaving peripheral hypopigmentation with hyperpigmentation with anomalies of limbs and nails and delayed development. She was born by normal vaginal delivery and weighed 2.5 kg at birth. None of the family members had such features. She had dental enamel anomaly and partial anodontia in the lower jaw. Sparse hair and partial alopecia (scalp, eyebrows and eyelashes) were recorded. CONCLUSION: Focal dermal hypoplasia is a congenital skin disease with a unique clinical feature. Thorough examination of the extremities is indicated for early proper genetic counseling and therapy.
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spelling pubmed-95599062022-10-27 Focal Dermal Hypoplasia with Osteopathia Striata Almashaqbeh, Shefa S. Aljammal, Diana S. Alharahsheh, Hend M. Alqudah, Samer F. Alkrimeen, Rana A. Med Arch Case Report BACKGROUND: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95% feature de novo and 90% of these are females. Focal dermal hypoplasia is induced by a mutation in the PORCN gene. OBJECTIVE: The aim of this article is to present a case of a one-year-old girl child with multi-hypopigmented reticulated atrophic macules and patches grouped in linear mode at the lines of blaschko, skeleton abnormalities, umbilical hernia, developmental delay, hypoplastic nails, syndactyly and lobster claw deformity. CASE REPORT: A one-year-old girl child presented to the dermatology clinic with asymptomatic lesions since childhood with no improvement, with multi- hypopigmented skin lesions on the trunk and extremities since birth as linear erosions that heal gradually during few days, leaving peripheral hypopigmentation with hyperpigmentation with anomalies of limbs and nails and delayed development. She was born by normal vaginal delivery and weighed 2.5 kg at birth. None of the family members had such features. She had dental enamel anomaly and partial anodontia in the lower jaw. Sparse hair and partial alopecia (scalp, eyebrows and eyelashes) were recorded. CONCLUSION: Focal dermal hypoplasia is a congenital skin disease with a unique clinical feature. Thorough examination of the extremities is indicated for early proper genetic counseling and therapy. Academy of Medical Sciences of Bosnia and Herzegovina 2022-08 /pmc/articles/PMC9559906/ /pubmed/36313953 http://dx.doi.org/10.5455/medarh.2022.76.301-304 Text en © 2022 Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Almashaqbeh, Shefa S.
Aljammal, Diana S.
Alharahsheh, Hend M.
Alqudah, Samer F.
Alkrimeen, Rana A.
Focal Dermal Hypoplasia with Osteopathia Striata
title Focal Dermal Hypoplasia with Osteopathia Striata
title_full Focal Dermal Hypoplasia with Osteopathia Striata
title_fullStr Focal Dermal Hypoplasia with Osteopathia Striata
title_full_unstemmed Focal Dermal Hypoplasia with Osteopathia Striata
title_short Focal Dermal Hypoplasia with Osteopathia Striata
title_sort focal dermal hypoplasia with osteopathia striata
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559906/
https://www.ncbi.nlm.nih.gov/pubmed/36313953
http://dx.doi.org/10.5455/medarh.2022.76.301-304
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