research Achalasia and hyperthyroidism: A co-occurrence revealing autoimmune connections
Early diagnosis and treatment of achalasia and hyperthyroidism improve patient outcomes.
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research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Alopecia Areata: A possible extraintestinal manifestation of Crohn's disease
Alopecia Areata might be linked to Crohn's disease.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research 519 The role of the leaky gut in the development of alopecia areata
A compromised gut may trigger the autoimmune hair loss condition Alopecia Areata.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Eosinophilic Esophagitis: Another Atopy-Related Alopecia Areata Trigger?
Eosinophilic esophagitis may trigger alopecia areata in some patients.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
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 The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research ANAPHYLAXIS: A NOVEL TRIGGER OF TELOGEN EFFLUVIUM IN A CHILD WITH COW'S MILK ALLERGY
Anaphylaxis from cow's milk allergy can cause temporary hair loss in children.
research Chronic graft-versus-host disease – the role of dermatological treatment
Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Protein-losing Enteropathy Exacerbated with the Appearance of Symptoms of Systemic Lupus Erythematosus.
Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
research Alopecia Universalis Associated with Cutaneous T Cell Lymphoma
Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.