research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
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180-210 / 1000+ resultsresearch Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Congenital Adrenal Hyperplasia
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child
A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Assessment of scalp hair survivin in patients with premature greying of hair
Examining Survivin levels may help understand premature greying of hair.
research Sarcoptic mange outbreak decimates South American wild camelid populations in San Guillermo National Park, Argentina
Sarcoptic mange nearly wiped out vicuñas and guanacos in an Argentine park.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Targeting integrin pathways: mechanisms and advances in therapy
New therapies are being developed that target integrin pathways to treat various diseases.
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 Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
A gene mutation causes curly hair and hair loss in rats.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.