research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
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720-750 / 1000+ resultsresearch 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 Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research ‘Disappearing Foot Disease’: An Unusual Presentation of Primary Lymphoma of Bone
An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research Tissue expansion and follicular unit extraction hair restoration in rehabilitation of a severe postburn deformity of neck and beard region
A young man with severe neck and beard burns was successfully treated, restoring neck movement and improving skin appearance.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Imaging sonographic findings of in a case of proliferating trichilemmal tumor of a finger: A case report
A rare finger tumor was imaged, showing a unique pattern not seen before.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Vulvar Discomfort in a 10-year-old Girl
A 10-year-old girl had genital pain from a small, red, crusty mass on her labia.
research Trichoptilosis Developing After First Exposure to Hair Gels
Hair gels may cause split ends in children.
research Superficial dermatophytosis in early neonatal period: Two uncommon cases
Two newborns with rare skin infections were successfully treated with antifungal cream.
research Halo Scalp Ring: An Annular Alopecia Associated with Birth Injury
A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
research Frictional Alopecia in a Child: An Uncommon Presentation of Lower Limb Hair Loss
A 6-year-old boy's leg hair loss was due to friction from sitting cross-legged, and it usually resolves on its own.
research Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
BMP5 is essential for ear cartilage cell growth in rodents.
research Pilomatricoma with Florid Osseous Metaplasia: A Cytologist’s Perspective
A rare skin tumor with bone formation was successfully removed without recurrence.
research A Neonate with Unexplained Hair Loss
The baby's hair loss was due to congenital syphilis, which was treated with penicillin.
research Implications of a Clinically Ignored Site of Acanthosis Nigricans: The Knuckles
Knuckle Acanthosis Nigricans is common in Latin American youth and may indicate early insulin resistance, especially in those with normal weight.
research 869 The specification of Merkel cell in the back skin and glabrous paw skin is controlled by FGFR2-meditated signaling
FGFR2 signaling controls Merkel cell formation in different skin regions.
research Acquired Localized Longitudinal Pachyonychia and Onychomatrical Tumors: A Comparative Study to Onychomatricomas (5 Cases) and Onychocytic Matricomas (4 Cases)
Larger nail cavity sizes suggest benign tumors, while smaller ones may need further biopsy to rule out cancer.
research Effective Surgical Treatment of Cubital Tunnel Syndrome Based on Provocative Clinical Testing without Electrodiagnostics
Surgical treatment for cubital tunnel syndrome can be effective using clinical tests without electrodiagnostics.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Hair tourniquet syndrome: revisited
Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.