Mette Ramsing
YOU?
Author Swipe
Majocchi’s Granuloma – The Great Mimicker: A Case Report Open
Fungal infections can be challenging to diagnose, but doctors of every specialty may encounter this issue. They can be mistaken for other common dermatoses such as eczema or psoriasis and inadvertently be treated with topical corticosteroi…
Supplementary Material for: Majocchi's granuloma - the great mimicker: a case report Open
Fungal infections can be challenging to diagnose, but doctors of every specialty may encounter this issue. They can be mistaken for other common dermatoses such as eczema or psoriasis, and inadvertently be treated with topical corticostero…
Idiopathic hypereosinophilic syndrome: A rare diagnosis in children Open
Idiopathic hypereosinophilic syndrome (IHES) is one of numerous hypereosinophilic syndromes. The incidence of IHES among children is unknown, but it is considered a rare disease. We report a pediatric case of IHES and the challenges to fin…
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies Open
Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next‐generation sequencing in fetuses with bilateral kidney ano…
Successful Topical Treatment of Pigmented Purpuric Lichenoid Dermatitis of Gougerot-Blum in a Young Patient: A Case Report and Summary of the Most Common Pigmented Purpuric Dermatoses Open
We report the case of a 12-year-old girl who presented a rash with reddish-brown patches on the trunk and extremities indicative of pigmented purpuric lichenoid dermatitis of Gougerot-Blum (PPLD). The histological findings were characteris…
Constitutive transgene expression of Stem Cell Antigen-1 in the hair follicle alters the sensitivity to tumor formation and progression Open
The cell surface protein Stem Cell Antigen-1 (Sca-1) marks stem or progenitor cells in several murine tissues and is normally upregulated during cancer development. Although the specific function of Sca-1 remains unknown, Sca-1 seems to pl…
First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray Open
Key Clinical Message Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. W…
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant Open
is missing (Short communication).
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function Open
Ciliopathies are a group of genetic disorders caused by defective assembly or dysfunction of the primary cilium, a microtubule-based cellular organelle that plays a key role in developmental signalling. Ciliopathies are clinically grouped …
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function Open
Ciliopathies are a group of genetic disorders caused by defective assembly or dysfunction of the primary cilium, a microtubule-based cellular organelle that plays a key role in developmental signalling. Ciliopathies are clinically grouped …