research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Hirsutism in the United Arab Emirates: a hospital study
Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Characterization of polycystic ovary syndrome among Flo app users around the world
Polycystic Ovary Syndrome (PCOS) symptoms vary globally, with bloating, high cholesterol, and glucose levels being common; the current diagnostic criteria may need refining.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Diagnosis of hyperandrogenism: clinical criteria
The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
research Multiple Eruptive Dermatofibromas in a Patient With Systemic Lupus Erythematosus Treated With Methylprednisolone
A woman with lupus developed rare skin growths that went away on their own.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Characteristics of 60 adult chronic hair pullers
Most adult chronic hair pullers are women who started in their early teens, often have other mental health issues, and may pull hair due to underlying psychiatric conditions.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research A RELAÇÃO ENTRE O TRANSTORNO DO ESPECTRO AUTISTA E A SÍNDROME DO CROMOSSOMO X FRÁGIL
research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
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 SAT-224 Polycystic Ovary Syndrome with Adrenal Hyperandrogenemia and Refractory Hirsutism
Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
research Local hypertrichosis: a rare complication of a temporary henna tattoo
A 5-year-old girl got a rare case of extra hair growth on her arm after a henna tattoo.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.