UNASSIGNED: Cutaneous scaling and associated clinical syndrome displayed in X-linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management. As these patients are very vulnerable perioperatively, meticulous care and support are utmost.
UNASSIGNED: Ichthyosis is a group of genetic conditions distinguished by the appearance of hyperkeratotic scales on the skin\'s surface. X-linked ichthyosis results from a mutation in the steroid sulfatase (STS) gene, which encodes the steroid sulfatase enzyme. Here we report a case of a 6-year-old child with X-linked ichthyosis. He presented to our operation theater for correction of left-sided undescended testis and underwent surgery uneventfully. To handle X-linked ichthyosis perioperatively, meticulous planning and efficient anesthetic administration are critical.

UNASSIGNED: Ichthyosis is a group of genetic keratinization disorders characterized by excessive scaling that is associated with hyperproliferative epidermis and/or cellular retention. Whereas normal outer epidermis thickness is 25 μm, it can be 10-fold greater in patients with ichthyosis. As a result, photoactivation of 7-dehydrocholesterol is impaired, causing systemic vitamin D deficiency.In this case series, 25 patients with congenital ichthyosis with vitamin D deficiency (<10 ng/mL) were supplemented with 60,000 IU of vitamin D3 for 10 days followed by daily allowance of 400 to 600 IU of vitamin D3 and 40 mg/kg per day of elemental calcium. The authors assessed improvement in cutaneous scaling and body and tested patients\' blood and urine samples at day 1, day 10, 1 month, and 3 months. They also documented patients\' Dermatology Life Quality Index score before and after treatment.All patients had normal vitamin D levels; supplementation was discontinued for two patients who reached a level of 100 ng/mL within 10 days. Subjective improvement of symptoms (dryness of the skin, allergic rhinitis, tightness of the skin, and scaling) was observed by both the provider and the patients. There was remarkable improvement in symptoms of severe ichthyosis such as lamellar ichthyosis (tightness of the skin and scaling). Marked improvement in Dermatology Life Quality Index score was also noted.This case series demonstrated remarkable symptomatic relief with vitamin D supplementation in patients with congenital ichthyosis; however, additional research should be conducted with larger sample sizes to support these findings.

BACKGROUND: Ichthyosis uteri is a rare pathological condition characterized by the replacement of the endometrial lining by stratified squamous epithelium. Yet its occurrence with endometrial adenocarcinoma is very rare.
METHODS: A 68-year-old woman has been experiencing sporadic, minor vaginal hemorrhages for a few months. The gynecological evaluation revealed a uterine enlargement and imaging demonstrated an irregular mass within the uterus.
METHODS: Endometrial adenocarcinoma with transitional cell differentiation; ichthyosis uteri with dysplasia.
METHODS: Radical hysterectomy with pelvic lymphadenectomy was performed followed by postoperative radiotherapy.
RESULTS: Postoperative follow-up at 8 months showed a favorable outcome without signs of recurrence and metastasis.
CONCLUSIONS: Adequate pathological sampling is crucial to identifying the accompanying lesions of ichthyosis uteri. Finding molecular alterations in various pathological morphologies is important to understand the evolution of disease.

Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, and a dismal prognosis; therefore the majority of neonates die shortly after birth from infection, heat loss, dehydration, electrolytic imbalances, or respiratory distress. The aim of this case report was to present a fatal case of Harlequin ichthyosis with no family history of any inherited skin disorder. A 3-day-old baby was presented to the emergency room with congenital abnormalities at birth, fissured hyperkeratotic skin, and thick yellow plates of scales. The parents had no history of consanguineous marriage, no relevant past medical history, and no family history of the same condition. The patient was unwell, pulse 162 times/minute, respiratory rate 48 times/minute, and axillary temperature 36.9oC. APGAR score was 8 in the 1st minute and 9 in the 5th minute. Based on the typical clinical appearance, the patient was diagnosed with Harlequin ichthyosis. Due to a lack of facility, a mutation analysis was not carried out. The patient was then transferred to the neonatal intensive care unit (NICU) and treated in a humidified incubator and medicated with intravenous antibiotics (ampicillin sulbactam 125 mg/12 hour and gentamicin 13 mg/24 hour), topically fusidic acid and mild emollients. A central venous catheter was used for intravenous access. The poor prognosis resulted in the patient dying at the age of 5-day-old. This case highlights that prenatal diagnosis is critical for early detection and disease prevention. Mutation screening for the ABCA12 gene is suggested for consanguinity marriages and with a history of ichthyosis.

We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness. Initially, we were faced with the question of whether the phenotype in this family was due to the effects of a single pleiotropic, presumably autosomal recessive gene manifesting as a syndromic form of ichthyosis, or whether there were multiple causal genes, and the ichthyosis was non-syndromic. Ultimately, clinical follow-up of the family, combined with research-based exome sequencing established a diagnosis of NIPAL4 autosomal recessive congenital ichthyosis in both brothers, but the ocular abnormalities causing blindness in the older brother were due to coexisting autosomal recessively inherited loss of function mutations in peroxidasin, the latter finding also seen in a sister unaffected by ichthyosis.

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Netherton syndrome (NS) is rare and multisystemic congenital skin disorder classically distinguied as a triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata (TI), and an atopic diathesis. Recent advances in pathogenesis have explored the role of IL-23/Th17 pathway in NS. Herein, we present a 17 years old girl harbouring homozygous four base pair deletion in exon 26 of the SPINK5 gene, presented with pruritus, scaling, dry skin and generalized eczematous lesions. She was administered anti IL17A (subcutaneous secukinumab) therapy. The treatment was well tolerated and resulted in a favourable clinical response, reduction of the IL17A gene expression and CD4 + Th17 cell population after 6 months which revealed an abrogation of Th17-skewing during therapy.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked hereditary disorder characterized by the triad of follicular hyperkeratosis-photophobia-alopecia. The clinical heterogeneity makes the diagnosis difficult. To investigate the clinicopathologic and trichoscopic features of KFSD and to further clarify the essential requisites for the diagnosis, we conducted a retrospective study of patients with KFSD. The clinical information, histologic features, and trichoscopic findings were evaluated. Eight patients were from seven separate families. Two females were mother and daughter from the same family and the other six patients were male and represented sporadic cases. The average age of onset of alopecia was 21.25 years. Involvement of the scalp hairs leading to progressive scarring alopecia on the midline of the scalp with variable degrees of inflammation was the pathognomonic feature. It typically began after puberty. Vellus hair-associated follicular hyperkeratosis affected all of the patients. However, photophobia was not a constant feature. Histopathologic examination revealed disorders of the hair follicle with an acute-chronic inflammatory response. Follicular changes including fused infundibulum, the protrusion of the outer root sheath into the follicular canal, and a dilatation of the follicles at the isthmus level caused by the occlusion of keratin were observed. The trichoscopic features included perifollicular scaling, tufted hairs, and loss of follicular openings. In conclusion, terminal hair involvement, either scalp hairs, eyebrows, or eyelashes, and the hyperkeratosis of the follicle of vellus hairs is the diagnostic basis of KFSD. We hypothesize that follicular changes in histopathology are the primary event that trigger variable inflammation and further follicular destruction.

Gut inflammation and defect in the gut mucosal barrier appear to have a correlation with skin diseases and vice versa. The coexistence of hereditary ichthyosis with active colitis has never been reported. We present a 17-year-old female with ichthyosis since birth, abdomen pain for 3 months, with acute colitis. After the initial diagnosis, the patient was started on antituberculous therapy (ATT), steroids, and mesalamine. She followed up with us for 1 year where there was resolution of symptoms. Steroids were stopped after 16 weeks, mesalamine was stopped after 20 weeks in view of low absolute neutrophil counts and ATT was stopped after 1 year. She was asymptomatic post 18 months of stopping ATT.

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