Subject(s)
Lasers, Gas/therapeutic use , Low-Level Light Therapy , Skin Aging , Female , Humans , MaleSubject(s)
Carcinoma in Situ/etiology , Melanoma, Amelanotic/etiology , Nose Neoplasms/etiology , Sunburn/complications , Aged , Biopsy , Carcinoma in Situ/pathology , Carcinoma in Situ/surgery , Diagnosis, Differential , Humans , Male , Melanoma, Amelanotic/pathology , Melanoma, Amelanotic/surgery , Nose Neoplasms/pathology , Nose Neoplasms/surgery , Surgical FlapsABSTRACT
Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis-ichthyosis-deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias.
Subject(s)
Connexins/genetics , Deafness/genetics , Ichthyosis/genetics , Keratitis/genetics , Point Mutation , Biopsy , Child , Child, Preschool , Connexin 26 , Deafness/classification , Deafness/diagnosis , Female , Humans , Ichthyosis/classification , Ichthyosis/pathology , Keratitis/classification , Keratitis/pathology , SyndromeABSTRACT
This case describes an unusual presentation of dermatomyositis in a patient with ovarian carcinoma. The eruption appeared as a venous stasislike dermatitis. The temporal sequence of onset after chemotherapy administration suggested a possible drug-induced process. However, in the context of underlying ovarian carcinoma, a paraneoplastic process offered an alternative explanation for the dermatomyositis.
Subject(s)
Dermatomyositis/diagnosis , Drug Eruptions/diagnosis , Leg Dermatoses/diagnosis , Paraneoplastic Syndromes/diagnosis , Aged, 80 and over , Antineoplastic Agents/adverse effects , Carboplatin/adverse effects , Dermatomyositis/etiology , Diagnosis, Differential , Drug Eruptions/etiology , Female , Humans , Leg Dermatoses/etiology , Ovarian Neoplasms/complications , Ovarian Neoplasms/drug therapy , Paclitaxel/adverse effects , Paraneoplastic Syndromes/etiology , Skin/pathology , Venous Insufficiency/diagnosisSubject(s)
Arthritis, Rheumatoid/drug therapy , Hypopigmentation/etiology , Immunoglobulin G/adverse effects , Lymphoma, T-Cell, Cutaneous/complications , Mycosis Fungoides/etiology , Skin Neoplasms/complications , Arthritis, Rheumatoid/complications , Black People , Etanercept , Female , Humans , Hypopigmentation/pathology , Middle Aged , Mycosis Fungoides/pathology , Receptors, Tumor Necrosis Factor , Skin Neoplasms/pathologyABSTRACT
OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.
