1/7. 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 = palm (Clic here for more details about this article) |
2/7. 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 = palm (Clic here for more details about this article) |
3/7. 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 = 5keywords = palm (Clic here for more details about this article) |
4/7. Dyschromatosis universalis hereditaria.Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intriguingly, the palms and soles were also affected with a diffuse hyper-pigmentation interspersed with spotty de-pigmented macules. Dystrophic nail changes with pterygium formation were seen in one case. Histopathology revealed a variable degree of pigmentary incontinence. Although the precise aetiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/7. Acrokeratoelastoidosis.A 45-year-old white woman presented with several years' history of firm, shiny papules on the lateral hands with slight extension to the dorsal fingers. The lesions first appeared between the index fingers and thumbs on both hands. They gradually increased in number, coalescing into plaques and affecting the junction between the palmar and dorsal skin. The patient did not have involvement of her feet. She had been diagnosed previously with chronic eczema that had failed to respond to multiple topical medications. In addition, the patient's sister had similar lesions on both hands. The patient denied any symptoms of hyperhidrosis, excessive sun exposure, or trauma. The plaques were asymptomatic, but were cosmetically unappealing to the patient. On physical examination, small, firm, skin-colored, hyperkeratotic papules, coalescing into plaques, were located on the junction between the palmar and dorsal skin on both lateral margins of the thumb and on the radial side of the index finger (Fig. 1). There were no lesions on the feet. A biopsy taken from a papule on the patient's left hand was consistent histologically with acrokeratoelastoidosis. The biopsy showed marked degeneration of collagen in the dermis with solar elastosis and some smudging of the papillary dermal collagen (Fig. 2). She was treated with clobetasone cream to the affected areas on the hands. After 6 weeks of treatment, she reported no significant improvement.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |
6/7. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis. Therefore we suggest that the condition should be described clinically as 'honeycomb palmoplantar keratoderma with ichthyosis'. Furthermore, we have assessed the amounts of transcript of LOR using pyrosequencing. This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma.- - - - - - - - - - ranking = 8keywords = palm (Clic here for more details about this article) |
7/7. tuberous sclerosis complex associated with dyschromatosis universalis hereditaria.tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |