1/14. genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.We report a 42-year-old Japanese man with an unusual autosomal recessive genodermatosis. The clinical features comprised normal skin at birth, loss of scalp hair at 3-months of age after a febrile illness, progressive nail dystrophy during infancy, palmoplantar keratoderma starting around the age of 18 years and trauma-induced skin fragility and blisters noted from the age of 20 years. skin biopsy of rubbed non-lesional skin revealed widening of spaces between adjacent keratinocytes from the suprabasal layer upwards. Electron microscopy demonstrated a reduced number of hypoplastic desmosomes. Immunohistochemical labeling showed a reduction in intercellular staining for the desmosome component plakophilin 1. mutation analysis revealed a homozygous intron 11 donor splice site mutation in the plakophilin 1 gene, 2021 1 G>A (GenBank no. Z34974). RT-PCR, using rna extracted from the skin biopsy, provided evidence for residual low levels of the full-length wild-type transcript (approximately 8%) as well as multiple other near full-length transcripts, one of which was in frame leading to deletion of 17 amino acids from the 9th arm-repeat unit of the plakophilin 1 tail domain. Thus, the molecular findings help explain the clinical features in the patient, who has a similar but milder phenotype to previously reported patients with skin fragility-ectodermal dysplasia syndrome associated with complete ablation of plakophilin 1 (OMIM 604536). This new 'mitis' phenotype provides further clinicopathological evidence for the role of plakophilin 1 in keratinocyte cell-cell adhesion and ectodermal development.- - - - - - - - - - ranking = 1keywords = keratoderma (Clic here for more details about this article) |
2/14. Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation.We report the first case of Dowling-Degos disease associated with squamous cell carcinomas (SCCs) in the pigmented area of Dowling-Degos disease. A 64-year-old Japanese man manifested dappled pigmentation unusually localized to the buttocks, and two pigmented adenoid SCCs had developed on his left pigmented buttock. The other findings of Dowling-Degos disease were comedone-like lesions on the face and back, a finger-like fibroma in the right popliteal fossa, dystrophic fingernails, and a large number of seborrhoeic keratosis-like lesions predominantly on the flexural areas. Another unique clinical feature was the lack of vellus hair on the whole body surface. In addition to thin branching and elongation of rete ridges with basal hyperpigmentation, immature hair follicles surrounded by fibrosis and a lace-like pattern of the hair follicle epithelia were observed histologically. These epithelial hamartomatous features were consistent with Dowling-Degos disease. We speculate that the SCCs developed in relation to an underlying naevoid anomaly in pilosebaceous epithelia of Dowling-Degos disease.- - - - - - - - - - ranking = 0.50593367240838keywords = keratosis (Clic here for more details about this article) |
3/14. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin c.We report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions. The syndrome resembles Papillon-Lefevre syndrome (PLS), characterized by palmoplantar keratoderma, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of PLS with acro-osteolysis. Both are caused by mutations in the cathepsin c gene (CTSC). Our patients differ in the unique nature of the palmar keratoderma and hypotrichosis. We have sequenced CTSC in the mother without finding mutations in either coding or non-coding parts of the gene. We propose that our patients suffer from a new syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC.- - - - - - - - - - ranking = 7keywords = keratoderma (Clic here for more details about this article) |
4/14. 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 = 3keywords = keratoderma (Clic here for more details about this article) |
5/14. Cole disease: hypopigmentation with punctate keratosis of the palms and soles.Cole disease is an uncommon disorder characterized by distinctive cutaneous hypopigmentation and punctate keratosis of the palms and soles. It is a congenital skin disease with an autosomal dominant inheritance pattern. We report two patients from a family with 15 members, 5 of whom were affected. One of the patients had both types of lesions since birth, while in the other they arose in the first months of life. We studied the pedigree, histopathology, immunohistochemistry, and electron microscopy findings of the hypopigmented macules with the patients' normal skin used as a control. The pedigree showed involvement of both genders, with a Mendelian autosomal dominant inheritance pattern with phenotypic variability in the family. immunohistochemistry showed a reduction in the melanin pigment in the keratinocytes and normal pigmentation in the melanocytes. Ultrastructural studies showed a strong contrast between the large number of melanosomes in the body and dendrites of the melanocytes, in contrast with the small number of these organelles in the neighboring keratinocytes. These findings suggest that this disease is a primary congenital disorder of the transfer mechanisms of the melanosomes from melanocytes to keratinocytes in hypopigmented lesions, associated with abnormal epidermopoiesis in the punctate hyperkeratosis.- - - - - - - - - - ranking = 3.0356020344503keywords = keratosis (Clic here for more details about this article) |
6/14. darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting.For the first time, we describe a case of type 2 segmental darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and Konig in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in darier disease.- - - - - - - - - - ranking = 0.50593367240838keywords = keratosis (Clic here for more details about this article) |
7/14. Erythrokeratoderma variabilis.Erythrokeratoderma variabilis is a rare autosomal dominant genodermatosis of variable expressivity. In this report, we describe the clinical features and microscopic findings in one of our patients born to unaffected parents. We also briefly review the literature on this disorder.- - - - - - - - - - ranking = 5keywords = keratoderma (Clic here for more details about this article) |
8/14. erythrokeratodermia variabilis.The case of a 10 year-old Japanese boy with erythrokeratodermia variabilis is reported in addition to a review of the Japanese literature. The patient was first examined in our clinic on October 21, 1965, because of generalized hyperkeratotic lesions and erythematous lesions which had persisted since he was 3 months old. Hyperkeratotic and verrucous lesions were noted on his auricles and trunk, on which there were also sharply demarcated erythematous lesions of various sizes and shapes which were not elevated from the adjacent skin. Laboratory findings were within normal limits. Histopathological examination revealed a remarkable hyperkeratosis with a basket weave appearance, moderate acanthosis and a slightly thickened granular layer. Polyethylenglycol 400 and corticosteroid ointment were slightly beneficial to the hyperkeratotic lesions.- - - - - - - - - - ranking = 0.50593367240838keywords = keratosis (Clic here for more details about this article) |
9/14. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.BACKGROUND: erythrokeratodermia variabilis (EKV) is an autosomal dominant or recessive genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. The disorder has been mapped to chromosome 1p35.1 but is genetically heterogeneous. EKV may be caused by pathogenic mutations in one of two neighbouring connexin genes, GJB3 and GJB4, encoding the gap junction proteins Cx31 and Cx30.3, respectively. Twelve distinct mutations identified to date cluster either at the cytoplasmic amino-terminus or in the four transmembrane domains. OBJECTIVES: To report a large family with EKV and an unrelated sporadic case. methods: dna amplification and mutation analysis, followed by denaturing high-performance liquid chromatography to confirm the segregation of the mutations in the two families with EKV. RESULTS: A novel, recurrent GJB3 mutation (625C-->T; L209F) was identified in the family with EKV and in the unrelated sporadic case. CONCLUSIONS: This mutation is the first to affect a conserved residue in the cytoplasmic carboxy-terminus of any connexin gene with a cutaneous phenotype, emphasizing its structural and/or functional importance.- - - - - - - - - - ranking = 0.50593367240838keywords = keratosis (Clic here for more details about this article) |
10/14. Kindler syndrome.Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like bloom syndrome, cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, rothmund-thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.- - - - - - - - - - ranking = 0.50593367240838keywords = keratosis (Clic here for more details about this article) |
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