research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
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research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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 Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Alopecia areata‐like pattern: A new unifying concept
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 Lupus cutáneo crónico
The patient has Chronic Cutaneous Lupus, a skin condition causing plaques and hair loss.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
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 Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Congenital cutaneous lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
research Atrichia with papular lesions mimicking alopecia areata universalis
The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
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 Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research PA31 Congenital alopecia areata: a systematic review
Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.