research Morbihan disease and extrafacial lupus miliaris disseminatus faceie: a case report
A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
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750-780 / 1000+ resultsresearch Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Lichen‐planopilaris‐like scarring pattern in a patient with alopecia and pityriasis rubra pilaris
A patient with a skin condition had unusual scarring hair loss but improved with treatment.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Prevalence of skin lesions in a sample of Brazilian patients with inflammatory bowel disease
Brazilian patients with inflammatory bowel disease have a high rate of skin problems compared to healthy people.
research Prematüre Pubarş Olgularının Değerlendirilmesi: Tek Merkez Deneyimi
Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
research Temporal expression and steroidal regulation of piRNA pathway genes (mael, piwi, vasa) during Silurana (Xenopus) tropicalis embryogenesis and early larval development
The piRNA pathway genes are crucial in early development and may influence sex differentiation through hormone regulation.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin
Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Reversible hair loss in a patient with cicatricial alopecia: A case of regrowth associated with pioglitazone use
Pioglitazone use was linked to hair regrowth in a patient with permanent hair loss from cicatricial alopecia.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Successful treatment of palmoplantar pustular psoriasis with brodalumab
Brodalumab effectively treated a man's severe hand and foot psoriasis.
research Is polycystic ovarian syndrome and insulin resistance associated with abnormal uterine bleeding in adolescents?
Adolescents with abnormal uterine bleeding often have polycystic ovarian syndrome and insulin resistance.
research Imatinib-induced classical lichen planopilaris in blaschko-linear distribution leading to cicatricial alopecia
Imatinib can cause hair loss due to lichen planopilaris.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Pseudofolliculitis barbae: Review and Update on New Treatment Modalities
New treatments are available for managing ingrown hair inflammation.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research THE OCCURRENCE OF DISCOID LUPUS ERYTHROMATOSUS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS, WITH OVERLAPPING ANCA-ASSOCIATED VASCULITIS, AND RHEUMATOID ARTHRITIS PRESENTING AS PAPULAR-PURPURIC GLOVE AND SOCK SYNDROME
A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.