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In this study, researchers found that skin, hair, and nail abnormalities are common in Turner Syndrome and suggest that these issues are linked to systemic factors. They recommend including dermatological evaluations in routine care for children with this condition.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This study describes a case of generalized trichorrhexis nodosa and finds that defects in alpha-keratin chain formation and low cystine levels in hair may contribute to the condition.

Isolated patchy heterochromia with pili annulati can occur without other health issues.

This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.

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.

Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.

In this study, retinoic acid treatments induced glandular and feather formation in embryos by altering positional values and activating specific retinoic acid nuclear receptor gene expression.

This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.

This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.

This chapter reviews fungal skin diseases in goats and their hereditary aspects, but it does not present new experimental results.

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.

This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This case report documents a rare association between atopic eczema and pili annulati in two siblings from north India, an unusual finding not previously reported in the literature.

This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

This case study reports that selenium shampoo, bacterial infection with trichomycosis axillaris, and possibly strongyloides larvae may have contributed to acquired hair shaft abnormalities resembling trichorrhexis nodosa in two patients.

This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.

This report describes a rare case of congenital generalized hypertrichosis terminalis in a six-year-old boy with gingival hyperplasia, a coarse face, congenital hydronephrosis, and a heterozygous deletion on chromosome 17q12.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.

This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.

Skin organoids can regenerate hair by forming specific cell units with certain signals.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This case report describes a unique presentation of porokeratotic eccrine ostial and dermal duct nevus with lesions on the dorsum of the hand and a focal lichenoid infiltrate, differing from typical palm and sole involvement.

In this review, researchers examined the molecular diversity and expression patterns of major skin appendage proteins, like keratins and EDC proteins, in tetrapods, highlighting recent findings in reptiles and birds and identifying knowledge gaps for future research.

In this study, epidermal Notch activation increased jagged 1 expression, leading to skin changes like thickening and blistering, with these effects inhibited when jagged 1 was absent.

Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.