Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases.

ABSTRACT: Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female.

SUBMITTER: Malvankar DD

PROVIDER: S-EPMC4639957 | biostudies-literature | 2015 Jul-Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases.

Malvankar Dipali D DD Sacchidanand S S

International journal of trichology 20150701 3

Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female. ...[more]

PMID: 26622157

Similar Datasets

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

Project description:Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.

| S-EPMC1051286 | biostudies-literature

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.

Project description:Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metalloprotease that is involved in the cleavage of sterol regulatory element binding proteins important for the control of transcription. Few families have been identified with an autosomal dominant inheritance of KFSD. We present two members of an Austrian family with a phenotype of KFSD, a mother and her son. The disease was not observed in her parents, pointing to a dominant inheritance with a de novo mutation in the index patient. Using whole-exome sequencing, we identified a heterozygous missense variant in CST6 in DNA samples from the index patient and her affected son. In line with family history, the variant was not present in samples from her parents. CST6 codes for cystatin M/E, a cysteine protease inhibitor. Patient keratinocytes showed increased expression of cathepsin genes CTSL and CTSV and reduced expression of transglutaminase genes TGM1 and TGM3. A relative gain of active, cleaved transglutaminases was found in patient keratinocytes compared to control cells. The variant found in CST6 is expected to affect protein targeting and results in marked disruption of the balance between cystatin M/E activity and its target proteases and eventually transglutaminases 1 and 3. This disturbance leads to an impairment of terminal epidermal differentiation and proper hair shaft formation seen in KFSD.

| S-EPMC8312243 | biostudies-literature

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Project description:Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. It consists of follicular hyperkeratosis of the skin, scarring alopecia of the scalp, absence of the eyebrows, and corneal degeneration. There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. In a large Dutch pedigree we performed DNA analysis in order to localize the KFSD gene. In 54 individuals, including 21 affected males, RFLP analysis was done using DNA probes covering the X chromosome. Two-point linkage analyses with 19 informative DNA markers revealed significant linkage to DNA probes on Xp21.1-p22.3. The highest lod scores of 5.70 and 4.38 were obtained with DXS41 and DXS16 at a recombination fraction of zero and 4 cM, respectively. Multipoint linkage data place KFSD between DXS16 and DXS269. Our data confirm X linkage of KFSD in this family and tentatively map the gene on Xp22.2-p21.2. Combined with clinical investigation, RFLP analysis may become an important tool in carrier detection.

| S-EPMC1682639 | biostudies-other

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Project description:X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.

| S-EPMC1051677 | biostudies-other

Mushroom-Like Skin Tumours: Report of Three Cases.

Project description:Mushroom like the growth of skin tumour is a rare phenomenon although described already in 1806 by Alibert, who focused on mycosis fungicides. We identified only four case reports in PUBMED database using the terms "mushroom-like growth" and "skin tumour". We analysed our files and identified three elderly female patients (69 to 94 years old). Histological diagnosis was melanoma, Merkel cell carcinoma and basal cell carcinoma. All tumours could be completely removed by wide excision or delayed Mohs surgery. No metastatic spread was noted.

| S-EPMC5535672 | biostudies-other

Dermoscopy and Reflectance Confocal Microscopy for Monitoring the Treatment of Actinic Keratosis with Ingenol Mebutate Gel: Report of Two Cases.

Project description:IntroductionA relatively novel application for dermoscopy and reflectance confocal microscopy (RCM) is their use in the monitoring of topical treatment response for non-melanoma skin cancer. Actinic keratosis (AK) is the early phase of a multistep biologic continuum leading to invasive squamous cell carcinoma. A number of topical therapies are now available for the treatment of AK but their disadvantages include long treatment duration and prolonged local reactions. Ingenol mebutate is a newer therapy for AK which is only applied for 2 or 3 days.Case reportDermoscopy and RCM findings in two patients with AK treated with ingenol mebutate confirm that it induces rapid lesion necrosis and specific neutrophil-mediated, antibody-dependent cellular cytotoxicity. Necrosis occurs via mitochondrial membrane disruption, with subsequent eradication of residual tumor cells via transient inflammation. Local skin reactions to ingenol mebutate should be considered part of the drug's mechanism of action rather than an adverse effect.ConclusionIngenol mebutate is a valuable therapy for the treatment of AK. This case report adds further evidence to the usefulness of dermoscopy and RCM in the assessment and monitoring of treatment outcome.

| S-EPMC4799035 | biostudies-literature

COVID-19 in tuberculosis patients: A report of three cases.

Project description: Not available

| S-EPMC7267258 | biostudies-literature

Laparoscopic repair of posttraumatic diaphragmatic rupture. Report of three cases.

Project description:IntroductionPosttraumatic diaphragmatic rupture (PTDR) is a rare complication of thoracoabdominal injuries. In the emergency phase, it is generally treated via wide laparotomy. The laparoscopic approach is controversial and it is reserved for the chronic type of PTDR. Herein we present three cases of laparoscopic treatment of PTDR, one of which was conducted early after the injury.Presentation of caseThe patients' age was 42, 66 and 53 years and the time from the injury until the operation 1 week, 2 months and 4 years, respectively. Hernia involved the left hemidiaphragm in two patients and the right hemidiaphragm in the second patient. Prolapsing viscera were the omentum/stomach/spleen, the small intestine and the omentum/large bowel, respectively. The PTDR was diagnosed right after the injury of the first patient but its treatment was postponed until the fourth day of hospitalization because of severe respiratory distress due to bilateral pneumothorax, flail chest and extended bilateral lung contusions. All patients underwent laparoscopic operation and correction of the hernia with the use of non-absorbable sutures or endoclips in two patients. There were no serious intra- or postoperative complications and the patients were discharged 30, 5, 6 days after the operation. After a period of 1, 8 and 9 years, respectively the patients remain without clinical evidence of recurrence.DiscussionTrauma is the major cause of acquired diaphragmatic hernias.ConclusionLaparoscopy is an attractive approach for the management of chronic PTDR. Moreover, it may offer the benefits of minimally invasive surgery during the acute phase of injury in highly selected patients.

| S-EPMC4201025 | biostudies-literature

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.

Project description:Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare autosomal recessive, X-linked, genetic disorder that involves a triad of follicular ichthyosis, atrichia of the scalp, and photophobia. We report a case of an 8-year-old boy with alopecia of the scalp, eyebrows, and eyelashes, which occurred in his first year of age. His birth was uneventful, and his developmental milestones were normal. The alopecia was non-scarring and was accompanied by mild generalized xerosis, photophobia, and recurrent angular cheilitis. Moreover, numerous non-inflammatory, follicular, keratotic tiny papules were noticed. His deciduous teeth had retention with gum hyperplasia, and his feet showed symmetrical plantar keratoderma and nail dystrophy of the right big toe. The genetic testing confirmed an X-linked recessive inheritance of IFAP syndrome without BRESHECK syndrome due to the mutation in the MBTPS2 (300294) gene located on chromosome Xp22.12. The patient was given symptomatic treatment with urea cream for plantar keratoderma and was advised to apply constant moisturizers to avoid generalized xerosis. Dermatological and ophthalmological follow-ups were recommended. This is the first case reported from Saudi Arabia. This case report throws light on the characteristics of IFAP syndrome and denotes the points of differentiation from similar conditions.

| S-EPMC10712326 | biostudies-literature

GAS POISONING WITH FREON-12 (A Report of Three Cases).

Project description:Three pauents of accidental gas poisoning with Freon-12 are reported. Presenting features were transient loss of consciousness, bradycardia, hypotension and anaesthesia. All patients made a rapid and uneventful recovery without any residual effects.

| S-EPMC5529683 | biostudies-other

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