research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
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510-540 / 1000+ results research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
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 UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research FFA Patient Profile Analysis Based on the Authors’ Observations and a Review of the Literature—An Original Survey
Frontal fibrosing alopecia often occurs after menopause, with delayed diagnosis and possible links to certain medications and conditions.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
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 8679 Case: The Sexual, Physical and Psychological Effects of Post-Finasteride Syndrome
Post-finasteride syndrome can cause lasting sexual, physical, and mental health issues with limited treatment options.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Pyoderma gangrenosum presented as generalized pustules in a patient with Crohn’s disease
Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research 54269 Patchy hair loss, hyperpigmented plaques, and hyperkeratotic papules in a middle aged woman
The patient responded well to treatment with no disease progression.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research IgG/IgA pemphigus with differing regional presentations
A woman with IgG/IgA pemphigus was treated successfully with dapsone and steroids.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research It's not all traction: the pseudo ‘fringe sign’ in frontal fibrosing alopecia
The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.