research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
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research Subclinical speckled perifollicular melanosis of the scalp.
The scalp has a natural speckled pattern of increased pigment around hair follicles, possibly linked to local hormone production.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Extradermal melanin transfer? Lack of macroscopic spleen melanization in old C57BL/6 mice with de-synchronized hair cycle.
Old C57BL/6 mice with unsynchronized hair cycles show less melanin in their spleens.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA‐sequencing
Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research Evidence for Genetic Heterogeneity in Monilethrix
research Role of Dermal Melanocytes in Cutaneous Pigmentation of Stasis Dermatitis
Melanin and melanocytes contribute to the brown pigmentation in stasis dermatitis.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Repigmentation of Leukoderma by Minigrafts of Normally Pigmented, Autologous Skin
Transplanting small skin grafts can successfully repigment leukoderma.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Partial Reversal of Canities in a 22-Year-Old Normal Chinese Male
A 22-year-old's gray hair partially turned back to its original color without known causes.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Defining compartmentalized stem and progenitor populations with distinct cell division frequency in the ocular surface epithelium
Stem and progenitor cells in the eye have different division rates and locations, affecting how they respond to injury.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.