1/32. cholesteatoma in a child with congenital ichthyosiform erythroderma.A 7-year-old girl had non-bullous congenital ichthyosiform erythroderma (NBCIE) in treatment with retinoids. She also suffered continuous desquamation of the external ears, recurrent external otitis, chronic adenoiditis, tubaric dysfunction and intermittent episodes of otitis media and developed a cholesteatoma in her left ear. Chronic scaling disorders, such as NBCIE and other ichthyosis, can be entities at risk for the development of cholesteatoma in childhood.- - - - - - - - - - ranking = 1keywords = erythroderma (Clic here for more details about this article) |
2/32. Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs.Netherton's syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity and manifestations, associated with hair abnormalities. The pathognomonic finding (required for diagnosis) is that of trichorrhexis invaginata identified by light and scanning electron microscopic examination of hair shafts. This may be difficult to establish because the hair is sparse and not all hairs exhibit abnormalities. In one patient, cutaneous and hair problems had existed since infancy, and despite repeated examination of scalp hairs, the definitive diagnosis was made only by examining eyebrow hairs at the age of 30 years. We subsequently compared the number of diagnostic lesions found on scalp and eyebrow hairs from two other patients with previously diagnosed Netherton's syndrome. The density of lesions was greater in eyebrow than scalp hair, and furthermore, all eyebrow hairs had at least one lesion. It is proposed that microscopic examination, if possible, of both scalp and eyebrow hair from patients in whom Netherton's syndrome is suspected would increase the chance of a positive diagnosis.- - - - - - - - - - ranking = 0.2keywords = erythroderma (Clic here for more details about this article) |
3/32. Netherton's syndrome in siblings.We report the perinatal presentation and evolution of Netherton's syndrome in siblings. The first patient, a female infant, presented with asphyxia at birth due to aspiration of desquamated scale, non-bullous ichthyosiform erythroderma, and hypernatraemic dehydration which she had for several days. Subsequently, she failed to thrive, with recurrent bacterial infections until 5 months of age, and very high serum IgE levels (1200 U/mL). Trichorrhexis invaginata and pili torti were identified at 18 months. The second patient was the younger brother of the first. Hydramnios and hyperechoic material in the amniotic fluid were observed by ultrasound at 35 weeks gestation, and he was delivered by elective Caesarian section at 40 weeks. At birth, no hair abnormality was demonstrated but, like his sister, his body was covered with thick caseous material, and he was erythrodermic. He failed to thrive, but serum IgE levels were normal until 5 months of age. Typical trichorrhexis invaginata was not observed until 7 months of age. Thus, the hair abnormality and high serum IgE levels in Netherton's syndrome appear late relative to the ichthyosiform erythroderma.- - - - - - - - - - ranking = 0.4keywords = erythroderma (Clic here for more details about this article) |
4/32. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears (Jordans' anomaly) in patients with ichthyotic erythroderma leads to the diagnosis. In spite of frequent liver, muscle, ear, eye and central nervous system involvement, Dorfman-Chanarin syndrome may present clinically as monosymptomatic ichthyosis. Here, we report clinical and laboratory investigations in a consanguineous family from turkey with 3 affected family members, and demonstrate the lipid vacuoles in epidermal Langerhans' cells for the first time. Langerhans' cell phenotyping suggests that the skin inflammation is due to the gene defect and not to underlying atopic dermatitis. Microscopic examination of eosinophils for lipid vacuoles to identify conductors revealed variable percentages of normal and vacuolized eosinophils in conductors, suggesting the microscopic analysis of at least 10 eosinophils for conductor identification.- - - - - - - - - - ranking = 0.4keywords = erythroderma (Clic here for more details about this article) |
5/32. Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and noonan syndrome.A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and noonan syndrome. X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the x chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type - a very rare association - and the combination with noonan syndrome has not been reported previously.- - - - - - - - - - ranking = 1keywords = erythroderma (Clic here for more details about this article) |
6/32. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.We report novel mutations in the transglutaminase (TGase) 1 gene (TGM1) in a Japanese boy with non-bullous congenital ichthyosiform erythroderma (NBCIE). The patient showed fine, grey or light-brown scales on an erythematous skin. An in situ TGase activity assay detected markedly reduced TGase activity in the patient's epidermis. Electron microscopy revealed incomplete thickening of the cornified cell envelope during keratinization in the epidermis. Sequencing of the entire exons and exon-intron borders of TGM1 revealed that the proband was a compound heterozygote for two novel mutations, 9008delA and R388H. In lamellar ichthyosis, most previously reported TGM1 mutations have been located in the central core domain or upstream of the TGase 1 molecule. In the present NBCIE patient, the frameshift mutation 9008delA resulting in a premature termination codon at the tail of the TGase 1 peptide was in the beta-barrel 2 domain (C-terminal end domain) of the peptide, far from the active sites of the TGase 1 molecule, and the mis-sense mutation R388H was in the core domain.- - - - - - - - - - ranking = 1keywords = erythroderma (Clic here for more details about this article) |
7/32. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I-IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity.- - - - - - - - - - ranking = 1.2keywords = erythroderma (Clic here for more details about this article) |
8/32. A case of Netherton's syndrome with cerebral infarction.Netherton's syndrome, a rare congenital disease of childhood, is characterized by variable cutaneous erythematous eruptions with different manifestations. A five-year-old boy, who presented with ichthyosis linearis circumflexa, atopic manifestations and pili torti, had spastic hemiparesia due to cerebral infarction. Netherton's syndrome can easily be misdiagnosed as Leiner's disease, generalized psoriasis or nonbullous congenital ichthyosiform erythroderma, especially in the neonatal period, because of its nonspecific clinical and histological features. Pediatricians should consider this syndrome in the differential diagnosis of the generalized erythematous skin disorders of childhood associated with various abnormalities.- - - - - - - - - - ranking = 0.2keywords = erythroderma (Clic here for more details about this article) |
9/32. Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. Of five reported pedigrees, four presented as mutilating keratoderma with ichthyosis (variant Vohwinkel syndrome), and one as progressive symmetric erythrokeratoderma. We report a new Japanese pedigree of loricrin keratoderma. A 14-year-old male and his 11-year-old female sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum. Their father was similarly affected. Direct sequencing of genomic dna revealed a G residue insertion at codon 230-231 of the loricrin gene. Antibody studies confirmed the presence of mutant loricrin in the retained nuclei. We conclude that loricrin gene mutation may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby.- - - - - - - - - - ranking = 1.2keywords = erythroderma (Clic here for more details about this article) |
10/32. erythrokeratodermia variabilis with erythema gyratum repens-like lesions.A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented. The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are discussed: erythrokeratodermia variabilis (Mendes da Costa), progressive symmetric erythrokeratoderma (Gottron), loricrin keratoderma, erythrokeratoderma en cocardes (Degos), netherton syndrome, keratitis-ichthyosis-deafness (KID) syndrome, erythrokeratolysis hiemalis (Oudtshoorn disease), and nonbullous congenital ichthyosiform erythroderma.- - - - - - - - - - ranking = 0.2keywords = erythroderma (Clic here for more details about this article) |
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