Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through Xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.
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PMID:A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. 1533 80

Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the GJB2 gene. In addition to the classical features of vascularizing keratitis, erythrokeratoderma and congenital deafness, our patient presented a follicular occlusion triad with hidradenitis suppurativa (HS, alias acne inversa), acne conglobata and dissecting cellulitis of the scalp, leading to cicatricial alopecia and disfiguring, inflammatory vegetations of his scalp. Conservative therapy such as a keratolytic, rehydrating and antiseptic external therapy, antibiotic, antimycotic and retinoids were only of moderate benefit, so we finally chose the curative possibility of surgery therapy of the axillar papillomas and of the scalp. The inflammatory papillomatous regions of the axillae and of the scalp were radically debrided. Clean granulation was awaited and covered in a second session with a mesh graft from the thigh, achieving a satisfactory result. To our knowledge, only one case of KID syndrome occurring in association with follicular occlusion triad has been reported before.
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PMID:Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 1617 43

Dissecting cellulitis (DC) also referred to as to as perifolliculitis capitis abscedens et suffodiens (Hoffman) manifests with perifollicular pustules, nodules, abscesses and sinuses that evolve into scarring alopecia. In the U.S., it predominantly occurs in African American men between 20-40 years of age. DC also occurs in other races and women more rarely. DC has been reported worldwide. Older therapies reported effective include: low dose oral zinc, isotretinoin, minocycline, sulfa drugs, tetracycline, prednisone, intralesional triamcinolone, incision and drainage, dapsone, antiandrogens (in women), topical clindamycin, topical isotretinoin, X-ray epilation and ablation, ablative C02 lasers, hair removal lasers (800nm and 694nm), and surgical excision. Newer treatments reported include tumor necrosis factor blockers (TNFB), quinolones, macrolide antibiotics, rifampin, alitretinoin, metronidazole, and high dose zinc sulphate (135-220 mg TID). Isotretinoin seems to provide the best chance at remission, but the number of reports is small, dosing schedules variable, and the long term follow up beyond a year is negligible; treatment failures have been reported. TNFB can succeed when isotretinoin fails, either as monotherapy, or as a bridge to aggressive surgical treatment, but long term data is lacking. Non-medical therapies noted in the last decade include: the 1064 nm laser, ALA-PDT, and modern external beam radiation therapy. Studies that span more than 1 year are lacking. Newer pathologic hair findings include: pigmented casts, black dots, and "3D" yellow dots. Newer associations include: keratitis-ichthyosis-deafness syndrome, Crohn disease and pyoderma gangrenosum. Older associations include arthritis and keratitis. DC is likely a reaction pattern, as is shown by its varied therapeutic successes and failures. The etiology of DC remains enigmatic and DC is distinct from hidradenitis suppurativa, which is shown by their varied responses to therapies and their histologic differences. Like HS, DC likely involves both follicular dysfunction and an aberrant cutaneous immune response to commensal bacteria, such as coagulase negative staphylococci. The incidence of DC is likely under-reported. The literature suggests that now most cases of DC can be treated effectively. However, the lack of clinical studies regarding DC prevents full understanding of the disease and limits the ability to define a consensus treatment algorithm.
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PMID:Dissecting cellulitis (Perifolliculitis Capitis Abscedens et Suffodiens): a comprehensive review focusing on new treatments and findings of the last decade with commentary comparing the therapies and causes of dissecting cellulitis to hidradenitis suppurativa. 2485 85

Purpose: To assess the spectrum and treatment outcomes of inflammatory eye disease (IED) in subjects with hidradenitis suppurativa (HS).Methods: We conducted a single center retrospective chart review of 236 patients with HS seen for ophthalmic examination between 2013 and 2018.Results: Of 236 subjects with HS, 22 subjects (9.3%) were found to have IED. Seven of 22 subjects had more than one IED diagnosis. Anterior uveitis was the most common type of IED (40.9% of subjects with IED). Episcleritis, optic neuritis, keratitis, scleritis, intermediate and posterior uveitis, trochleitis, and dacryoadenitis were also observed. Of subjects with HS and IED, 59.1% did not have any other inflammatory or autoimmune disease that could explain the etiology of their IED. Eleven patients with IED were treated with systemic immunosuppression, with IED as the principal factor directing treatment in three patients.Conclusions: IED may be independently associated with HS and may benefit from systemic immunosuppression.
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PMID:Characterization and Management of Inflammatory Eye Disease in Patients with Hidradenitis Suppurativa. 3225 1