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This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.

This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.

This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This study identified three EDAR gene variants potentially linked to hypohidrotic ectodermal dysplasia in three Pakistani families, which could aid in genetic counseling for similar cases.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.

This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.

This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.

In this study, researchers mapped gene expression in developing hair follicles to reveal unknown cell populations and markers, suggesting early establishment of cell fates in hair placodes.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.

This study identified ectomesenchyme as a major source of epidermal stem cells in mouse skin, with ectomesenchymal keratinocytes occupying a significant portion of the epidermal stem cell-enriched population.

This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.

This case report describes a 16-year-old liver transplant patient with previous chicken pox infection experiencing disseminated varicella zoster virus infection with pneumonia, highlighting the importance of early acyclovir treatment in immunocompromised patients.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.

This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.

This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.

This study demonstrated that transplanting in vitro differentiated Wharton's jelly mesenchymal stem cells on acellular dermal grafts led to complete skin regeneration with appendages in a mouse model of full-thickness wounds.

This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.

This article reviews the morphogenesis and cycling of hair follicles and the complex signaling pathways involved, without reporting new experimental results.

This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.