Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.

BACKGROUND: No efficient treatment has yet been established for epidermolytic ichthyosis (EI), which is caused by pathogenic variants of KRT1 or KRT10. Patients with ichthyosis with confetti (IWC) have multiple normal-appearing spots, caused by the revertant somatic recombination of pathogenic variants that occurs at each spot independently. Additionally, some patients with EI have large areas of normal skin due to revertant postzygotic mosaicism. OBJECTIVES: To assess the feasibility of transplanting cultured epidermal autografts (CEAs) produced from revertant epidermal keratinocytes in patients with EI and IWC. METHODS: We performed a clinical trial of treatment with CEAs produced from each patient's own revertant epidermal keratinocytes as a proof-of-concept study. This was a single-arm, open, unmasked, uncontrolled, single-assignment, treatment-purpose study. The primary outcome was the percentage area that lacked recurrence of ichthyosis lesions 4 weeks after the final transplant. The secondary outcome was the percentage area lacking recurrence of ichthyosis lesions 24 weeks after the initial transplantation. The trial was registered with the Japan Registry of Clinical Trials (jRCTb041190097). RESULTS: We successfully produced CEAs from genetically confirmed revertant skin from two patients with mosaic EI and from one patient with IWC and confirmed by amplicon sequencing and droplet digital polymerase chain reaction analysis that the CEAs mainly consisted of revertant wild-type cells. Single-cell RNA sequencing analysis confirmed the normal proliferation and safety profiling of CEAs. CEAs were transplanted onto desquamated lesional sites in the patients. Four weeks post-transplantation, the percentage area lacking recurrence of ichthyosis lesions in the three patients was 40%, 100% and 100% respectively, although recurrence of ichthyosis lesions was seen at the site of CEA transplantation in all three patients at 24 weeks post-transplantation. CONCLUSIONS: CEAs from normal skin have the potential to be a safe and local treatment option for EI and IWC.

Epidermolytic ichthyosis is a rare skin condition that causes redness, blistering and thickening of the skin. There is currently no effective treatment for the disease, which is caused by mutations in the genes KRT1 or KRT10. People with a type of the disease called 'ichthyosis with confetti' have many normal-appearing spots that are caused by the natural repair of the gene mutations. Some people with epidermolytic ichthyosis have large areas of healthy skin as a result of genetic mutations having been corrected. In this study, we successfully produced skin grafts from the healthy skin of two patients with epidermolytic ichthyosis and one with 'ichthyosis with confetti'. We confirmed that the skin grafts mainly consisted of repaired skin cells. A technique called 'single-cell RNA sequencing' confirmed the skin cells in the skin grafts behaved like healthy skin cells and that the grafts were safe. Overall, our study findings suggest that skin grafts taken from skin consisting of genetically normal keratinocytes that have undergone self-repair have potential to be a safe treatment option for patients with severe epidermolytic ichthyosis and 'ichthyosis with confetti'.

A Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care.

A 14-year-old girl with a history of keratitis-ichthyosis-deafness (KID) syndrome, a rare autosomal dominant condition, was referred to the Department of Plastic Surgery at Brussels University Hospital in June 2016 for progressively worsening inguinoperineal ulceration exacerbated by overapplication of combination drug treclinax (tretinoin and erythromycin). On assessment, a large area of purulent papillomatous hyperkeratosis with follicular plugging, likely superimposed bacterial colonization, and deep ulceration were noted requiring thorough debridement.A first procedure was performed in June 2016 with hydrosurgical debridement (Versajet IITM; Smith & Nephew, Forth Worth, Texas). During the procedure, significant blood loss was noted, and topical adrenaline, blood transfusion, and a short ICU stay were required for monitoring during which the patient remained hemodynamically stable. The wound was primarily dressed with an antimicrobial barrier silver dressing; meropenem, ceftazidime, and fluconazole were started to treat for Gram-negative, Gram-positive, and anaerobic bacilli, as well as Pseudomonas aeruginosa and fungal infections in situ. A further three debridements were required 6, 12, and 26 days after the initial procedure. The patient was discharged 36 days after admission without any antibiotics and with an outpatient wound care plan.Not only was this case rare, but it also reflected the importance of a careful approach when tackling KID syndrome's cutaneous manifestations. Multiple debridements, thorough wound care, and appropriate antibiotic therapy may be required to achieve local healing and a satisfactory result. Hydrosurgical debridement offered a precise and well-controlled method for treating a large ulcerating hyperkeratotic urogenital lesion in this pediatric patient.

Queratitis infecciosa en paciente con síndrome KID / Infectious keratitis in a patient with KID syndrome

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Anesthetic Care of 2 Siblings With Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome: Case Reports.

We report for the first time the anesthetic management of 2 sisters suffering from neonatal ichthyosis and sclerosing cholangitis syndrome. They both presented with neonatal cholestatic jaundice and ichthyosis. The first was admitted for orthotopic liver transplantation at the age of 1 year, and the second patient underwent open pyeloplasty for a pyeloureteric junction syndrome at the age of 4 years. These 2 case reports highlight that, except for the potential difficulties with securing the catheters, dressings and endotracheal tube to the skin, the anesthetic implications of neonatal ichthyosis and sclerosing cholangitis syndrome are mainly related to the liver disease: cirrhosis and portal hypertension.

Keratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome.

We report the first case of Boston Keratoprosthesis (KPro) implantation in a 7-year-old girl with keratitis-ichthyosiform-deafness syndrome and persistent, highly vascular corneal surface disease. An adult aphakic KPro with 8.5 mm backplate was implanted successfully and without operative or postoperative complications following 3 failed penetrating keratoplasties. Visual acuity improved from hand motions to 20/70 in the left eye 22 months after KPro surgery and from hand motion to hand motion with direction in the right eye. Glaucoma developed in the left eye, but intraocular pressure was successfully controlled with Ahmed valve placement and topical dorzolamide-timolol.

Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients.

OBJECTIVE AND IMPORTANCE: The objective of this study was to describe long-term outcomes after cochlear implantation in keratitis-ichthyosis-deafness (KID) syndrome, often caused by GJB2 mutations, in the context of other reported cases. Clinical presentation and intervention: The authors conducted correlative clinical and molecular genetic analysis on two implanted patients with KID syndrome, and tabulated their clinical outcomes. Both children had initially successful surgery. In one case, due to skin-related problems, despite extensive salvage surgery cochlear explantation was required. This patient now communicates with sign language and lip-reading. This contrasts with the outcome for the other patient whereby at post-operative year 10 he is able to easily converse by telephone. Both patients each carry a de novo 148G > A GJB2 mutation. CONCLUSION: Patients with KID syndrome appear to be good candidates for cochlear implantation but may face significant skin-related problems which could disrupt successful post-operative habilitation. Consultation with dermatological colleagues regarding any new therapies may be warranted.

Eyelid squamous cell carcinoma in xeroderma pigmentosa: a therapeutic challenge.

A 10-year-old male, Muslim child diagnosed with xeroderma pigmentosa with a right upper lid malignancy presented as a therapeutic challenge because of the non-availability of normal facial skin for grafting and lid reconstruction. The lid lesion had been present for the last one month. The disease had been present for past five years with polymorphous, erythematous lesions all over the body. On examination, there was a hard reddish yellow mass in the lower lid with features of secondary infection along with corneal xerosis in both eyes. With a clinical diagnosis of malignancy, the lesion was subjected to a wide excision after the investigations. The resultant large tissue defect in the right lower lid region was managed by a full thickness trans-midline lateral forehead flap based on superficial temporal artery. Post operatively, there was a satisfactory graft uptake. The paucity of surgical options for the plastic reconstruction coupled with the large area to be reconstructed made our case worth reporting.

[A simple setting for continuous irrigation in Charleux surgery for dry eye]. / Un montage simple d'irrigation continue dans l'opération de Charleux pour l'oceil sec.

The treatment of xerosis [dry eye] registered a major advance with the diversion of Stenon's canal to the conjunctival sac, as proposed by Filatov-Chevaliev in 1951. This operation, however cannot be undertaken, unless the salivary secretion is normal. In Sjogren's syndrome, where salivation is equally deficient, extra-corporal irrigation remains the unique solution. The setting required for the continuous supply of artificial tears, however, present serious problems: the installation and location of a reservoir, creation of a smooth working, portable mechanism of propulsion as well as the tubular conduction to the eye, without risk of injury to the latter. The creation of a subcutaneous canal paved with oral mucosa, temporal to the outer canthus, as proposed by Charleux, provided the solution for the last point: the safe instillation to the eye. Whereas the numerous devices proposed so far to ensure a constant and dosable supply of artificial tears, have not given full satisfaction in practice. The simplified setting, above described, consisting of a saline unit placed high in the fez, has given proof of efficiency; the irrigation of the eye depending here on gravity, the motor and its multiple risks are eliminated. Accessibility, easy manipulation and the local guise of the proposed setting renders it particularly acceptable to the patient in the East.

[Ichthyosis uteri. Case report on a rare clinical entity]. / Zur Kenntnis der Ichthyosis uteri. Fallbericht eines seltenen Krankheitsbildes.

The present paper communicates an observation of a squamous cell carcinoma of the corpus uteri at the base of an ichthyosis uteri. The ichthyosis uteri developed over a period of just three years from a discrete squamous cell metaplasia of the endometrial body in the presence of slight nonspecific endometritis. It is recommended that when ichthyosis uteri is detected the uterus should be removed, since the changes cannot be eliminated by curettage and there is a risk of malignant degeneration within a relatively short time.

[Results of perforating keratoplasty in hereditary corneal diseases (author's transl)]. / Ergebnisse der perforierenden Keratoplastik bei hereditären Hornhauterkrankungen

Operation results of keratoplasty in 50 eyes having keratoconus are presented and discusses. Furthermore a report is made on keratoplasty in cases of keratotorus in reticulate, maculate, and granulate dystrophies as well as in congenital ichthyosis with corneal involvement. The prognosis and complications of this intervention are presented.