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This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.

This case report describes a 17-year-old boy with obesity who was diagnosed with severe hypothyroidism, leading to myopathy, rhabdomyolysis, acute kidney injury, and bradycardia. Following treatment with IV levothyroxine and liothyronine, his symptoms improved, and he achieved significant weight loss over five months.

This report describes a rare case of angiokeratomas on both the upper eyelids and scrotum, adding to the limited literature on eyelid occurrences and discussing potential causes.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.

This study describes a new imaging platform for the adult Drosophila midgut, facilitating real-time observation of cell behaviors and dynamics involved in organ renewal.

This case report describes a rare and atypical presentation of primary hypothyroidism with myxedema in a two-year-old boy, highlighting the importance of recognizing unusual symptoms for timely treatment.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

This research highlights the development of cardiac pacing technologies, focusing on resynchronization and conduction system pacing, with clinicians particularly hopeful about direct left bundle branch pacing.

This study observed that while dexamethasone-cyclophosphamide pulse therapy is relatively free from hypertension and diabetes compared to conventional steroids in pemphigus patients, it frequently causes generalized weakness and flushing.

This case report describes a 20-month-old female with a rare adrenocortical virilizing tumor, successfully treated with surgery, showing no pathological lesions over a 10-year follow-up.

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This case study suggests that genetic susceptibility to PCOS and rare syndromes, such as Trichorhinophalangeal syndrome Type 1, should be considered in young men with unexplained hyperandrogenism.

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 the first known instance of dermatomyositis-related panniculitis in the neck and mediastinal region, effectively treated with corticosteroids, dapsone, and colchicine.

In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study found that three wall orbital decompression by the coronal approach effectively reduces proptosis in Graves' ophthalmopathy patients with fewer complications compared to other techniques.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

In this case study, a large colonic lipoma led to colo-colonic intussusception requiring surgical intervention in a 74-year-old man.

In this case study, a six-year-old girl was diagnosed with isolated adrenarche, linked to premature adrenal maturation, with increased dehydroepiandrosterone sulfate and axillary and pubic hair growth, and will require long-term monitoring due to increased risks of conditions like polycystic ovary syndrome and cardiovascular diseases.

This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.