Browse
Submit Data
Databases
API
Help

Dataset Information

25 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder.

ABSTRACT: Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We report a case of 16-year-old female who had generalized reticulate pigmentation, dental changes, nail changes, and absence of dermatoglyphics and hypohydrosis.

SUBMITTER: Sanodia G

PROVIDER: S-EPMC6537681 | biostudies-literature | 2019 May-Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder.

Sanodia Gitika G Hulmani Manjunath M Kumar V Jagannath VJ

Indian journal of dermatology 20190501 3

Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We report a case of 16-year-old female who had generalized reticulate pigmentation, dental changes, nail changes, and absence of dermatoglyphics and hypohydrosis. ...[more]

PMID: 31148864

Similar Datasets

NK cell defects in X-linked pigmentary reticulate disorder.

Project description:X-linked reticulate pigmentary disorder (XLPDR, Mendelian Inheritance in Man #301220) is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase-α (Pol-α), which is responsible for Okazaki fragment synthesis during DNA replication. Reduced POLA1 expression in this condition triggers spontaneous type I interferon expression, which can be linked to the autoinflammatory manifestations of the disease. However, the history of recurrent infections in this syndrome is as yet unexplained. Here we report that patients with XLPDR have reduced NK cell cytotoxic activity and decreased numbers of NK cells, particularly differentiated, stage V, cells (CD3-CD56dim). This phenotype is reminiscent of hypomorphic mutations in MCM4, which encodes a component of the minichromosome maintenance (MCM) helicase complex that is functionally linked to Pol-α during the DNA replication process. We find that POLA1 deficiency leads to MCM4 depletion and that both can impair NK cell natural cytotoxicity and show that this is due to a defect in lytic granule polarization. Altogether, our study provides mechanistic connections between Pol-α and the MCM complex and demonstrates their relevance in NK cell function.

| S-EPMC6948767 | biostudies-literature

Jadassohn Lewandowsky Syndrome: A Rare Entity.

Project description:Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth.

| S-EPMC4601465 | biostudies-literature

Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

Project description:Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes.

| S-EPMC4693352 | biostudies-literature

JAK Inhibition in a Patient with X-Linked Reticulate Pigmentary Disorder.

Project description: Not available

| S-EPMC7846528 | biostudies-literature

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

Project description: Not available

| S-EPMC5640471 | biostudies-literature

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Project description:X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral symptoms suggestive of abnormally regulated inflammation. A genetic linkage study of a large Canadian kindred previously mapped the PDR gene to a greater than 40 Mb interval of Xp22-p21. The aim of this study was to identify the causative gene for PDR. The Canadian pedigree was expanded and additional PDR families recruited. Genetic linkage was performed using newer microsatellite markers. Positional and functional candidate genes were screened by PCR and sequencing of coding exons in affected males. The location of the PDR gene was narrowed to a approximately 4.9 Mb interval of Xp22.11-p21.3 between markers DXS1052 and DXS1061. All annotated coding exons within this interval were sequenced in one affected male from each of the three multiplex families as well as one singleton, but no causative mutation was identified. Sequencing of other X-linked genes outside of the linked interval also failed to identify the cause of PDR but revealed a novel nonsynonymous cSNP in the GRPR gene in the Maltese population. PDR is most likely due to a mutation within the linked interval not affecting currently annotated coding exons.

| S-EPMC2714970 | biostudies-literature

Josef Jadassohn (1863-1936), Felix Lewandowsky (1879-1921), and their syndrome.

Project description:Josef Jadassohn (1863-1936) and his assistant, Felix Lewandowsky (1879-1921), were eminent German dermatologists who had several dermatology conditions linked eponymously. One such condition is Jadassohn-Lewandowsky syndrome, which is a type of pachyonychia congenita - a disease that is characterized by severe thickening of the nail due to massive nail hyperkeratosis. This report describes Jadassohn-Lewandowsky syndrome and the men behind this disease.

| S-EPMC3257882 | biostudies-literature

Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

Project description:Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures. ISH shows a severe visceral involvement, recurrent infections, and early death. We report a case of 2.5-year-old female patient who presented with HFS who had overlapping features of both ISH and JHF. To the best of our knowledge, very few cases of HFS have been reported in Indian literature till date.

| S-EPMC5029258 | biostudies-literature

PHARC Syndrome, a Rare Genetic Disorder-Case Report.

Project description: Not available

| S-EPMC8354082 | biostudies-literature

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Project description:Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.

| S-EPMC10798831 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data