research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
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510-540 / 1000+ resultsresearch Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 -Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Erosive pustular dermatosis of the scalp - is it really a rare condition?
Erosive pustular dermatosis of the scalp may not be as rare as previously thought.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Erosive pustular dermatosis (chronic atrophic dermatosis of the scalp and extremities)
Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Erosive Pustular Dermatosis of the Scalp Following Hair Transplantation: A Rare Complication
Hair transplants can rarely cause scalp inflammation leading to hair loss, needing early detection and treatment.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Congenital Hypotrichosis in a White-Tailed Deer Fawn from South Dakota
A deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
research Hair Loss in Autoimmune Cutaneous Bullous Disorders
Hair loss in autoimmune blistering skin diseases varies and may regrow with disease control.
research Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia
Biotin improved hair growth and combability in one child with uncombable hair syndrome.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis
Hair follicle development involves specific cells and genes, crucial for understanding severe skin diseases like harlequin ichthyosis.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.