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Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

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.

In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.

Some scalp sores are linked to different inherited skin conditions.

This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.

A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.

This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.

In this study, subcutaneous injections of murine epidermal growth factor in marsupial pouch young inhibited the formation of hair follicles and associated structures, altering normal follicle development.

In this report, researchers describe an unusual case of congenital pili multigemini, a hair follicle disorder, presenting on the eyebrow of a female infant, highlighting its rarity and atypical location.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This review discusses the mechanisms behind hair patterning during mouse embryonic development and reports no new experimental findings.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This study found that nevoid basal cell carcinomas originate in the epidermis and the upper part of the hair follicle, showing similarities to nonnevoid basal cell carcinomas.

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

In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.

This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

Surgery on a baby with a skin disorder improved eyelid position and eye health.

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.

This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.

This article proposes a new classification system for cutaneous adnexal cysts based on their origin in the folliculo-sebaceous unit and sweat glands, aiming to clarify their categorization and origins.

This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

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 article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.