1/61. Comel-netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16. We describe a 28-year-old woman with characteristic clinical signs of Comel-netherton syndrome (CNS) who showed numerous plane warts on her face and forearms and papillomatous skin tumours affecting her groins and genitoanal skin. Using human papillomavirus (HPV) type-specific primers for cutaneous and mucosal HPV types we identified HPV 16-specific sequences in plane warts and HPV 51- and HPV 52-specific dna in papillomatous skin from the patient's groins, suggesting a pathogenetic role (cofactor) for HPV in the development of verrucous skin lesions in patients with CNS. Whether the susceptibility to HPV infections is due to decreased cellular immunity or epidermal defence mechanisms remains to be seen. ( info) |
2/61. 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. ( info) |
| BACKGROUND: In addition to the well-defined hereditary primary ichthyoses, many sporadic or less well-defined keratinization disorders with or without systemic manifestations have been reported. Herein we describe ichthyosiform dermatosis associated with type 2 diabetes mellitus. OBSERVATIONS: The patients were members of a large Arab family with heavy consanguinity. Eighteen members were affected with a variously severe scaly disorder. They showed migratory polycyclic keratotic scaly plaques evolving into diffuse generalized scaling or complete remission. acanthosis nigricans-like lesions were also noted, and there was an association with type 2 diabetes mellitus. A scarcity of intercorneocyte lamellae and reduction in lamellar body contents were observed. CONCLUSIONS: We could not find a report of a similar dermatosis. Furthermore, an association between ichthyosis and diabetes has not been documented. Therefore, we believe that this may constitute a new entity. ( info) |
4/61. 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. ( info) |
5/61. Oleogranulomatous response in lymph nodes associated with emollient use in Netherton's syndrome. paraffin-based emollients are widely used in dermatological practice and are not usually absorbed through the skin. We report a case where transcutaneous transfer did occur in the context of damaged skin in Netherton's syndrome, resulting in a reversible lymphadenopathy. ( info) |
6/61. 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. ( info) |
7/61. 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. ( info) |
| Severe infantile gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively. ( info) |
9/61. Surgical treatment of child nevus. We report a young girl with an unusual manifestation of child syndrome in whom skin lesions showed involvement of the right side of her neck as well as symmetrically distributed ptychotropic involvement of the large body folds. Excision resulted in improvement and finally healing of skin lesions within the submammary folds, where breast reduction was also performed, whereas excision of axillary lesions and subsequent grafting with split skin turned out to be unsuccessful. ( info) |
10/61. collodion baby: a case report. A case report of a collodion baby born in a community hospital who was diagnosed, stabilized, and transferred for dermatologic management is presented. Differential diagnosis based on cornification disorder phenotypes is outlined. The initial stabilization, management, and nursing considerations of the infant with impaired barrier function of the skin are outlined. ( info) |