Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This review highlights that hirsutism in the GCC is influenced by genetic and lifestyle factors, cultural stigmas, and lacks adequate diagnostic tools, stressing the need for culturally tailored research and public health initiatives.

This case report describes a 4-year-old patient with complete hair loss and keratotic papules, leading to a diagnosis of atrichia with papular lesions, underscoring diagnostic challenges in resource-limited settings and suggesting a clinical framework for identifying this condition, especially in consanguineous families.

This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

This article discusses congenital atrichia and presents no new clinical findings.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

This case study reports a two and a half-month-old with biotinidase deficiency who showed rapid seizure improvement with biotin treatment after presenting with convulsions and neurological symptoms.

This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

This report describes a rare case of papular atrichia in a 4-year-old girl, highlighting the absence of effective treatment to stimulate hair growth for this condition.

This case report describes a 5-year-old girl with lipoid proteinosis, characterized by a raspy voice, thinning scalp hair, and recurrent crusted lesions leading to pock-like scars.

PRP helps hair growth in common hair loss disorder.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

Tigason improved hair growth in a boy with monilethrix without side effects.

This case report describes successful CO2 ablation treatment of porokeratotic adnexal ostial nevus in an 8-year-old boy, with marked improvement over a 12-year follow-up.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This case report describes a 60-year-old man with a rare 46, XX karyotype who presented with cerebellar infarct and polycythaemia, leading to further endocrine investigations after adrenal gland enlargement was found.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.

This case study highlights the unique occurrence of Papillon-Lefévre syndrome in two siblings from a consanguineous family, emphasizing the potential role of genetic factors in the disease's development.

The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

In this study, individualized homoeopathic treatment with Silicea showed a marked reduction in depigmentation for a case of vitiligo, with a likely causal link suggested by evaluation criteria.