research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
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420-450 / 1000+ results research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Premature adrenarche, polycystic ovary syndrome and intrauterine growth retardation: does a relationship exist?
Low birthweight and rapid weight gain after birth may increase the risk of developing polycystic ovary syndrome.
research Precocious Puberty
Early puberty is more common in girls and African-American children, possibly due to nutrition, obesity, stress, and environmental factors, and is treated with hormone therapy.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome
Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Familial Androgenetic Alopecia in Siblings with Normal Endocrinological Status
Two young siblings experienced hair loss without hormone issues or other skin problems.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
research Cutaneous Manifestations of Endocrine Disease
Endocrine diseases in children can cause various skin and hair changes.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.