The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Lind, Lisbet K.; Lundström, Anita; Hofer, Per‐Åke; Holmgren, Gösta

doi:10.1093/hmg/3.10.1789

Cited by 49 publications

(39 citation statements)

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“…There are also RASopathies that can present with cutaneous symptoms similar to those seen in the PPK, such as Costello syndrome [52]. Table 1 [48,50,[53][54][55][56][57][58][59][60][61][62][63][64][65][66][67][68] provides a broad overview of PPK diseases that may be included in the differential diagnosis of Mal de Meleda.…”

Section: Differential Diagnosesmentioning

confidence: 99%

Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda. SLURP-1 is involved in mediation of inflammation as well as keratinocyte apoptosis regulation. Because the disease is so rare, there are no set guidelines for management, but the accepted approach tends to include oral acitretin plus topical keratolytic therapy. Genetic counseling should also be offered. This focused review highlights the clinical and histological features, differential diagnoses, genetic background, and the current thoughts on management of Mal de Meleda.

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Section: Differential Diagnosesmentioning

confidence: 99%

Mal de Meleda: A Focused Review

Pérez

Khachemoune

2015

Am J Clin Dermatol

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“…Sybert type PPK [30][31][32] It is a type of diffuse ppk with no other association. It is a severe transgredient keratoderma reported by Sybert et al (Virginia Sybert, (Fig.…”

Section: Remarksmentioning

confidence: 99%

Eponyms in the dermatology literature linked to Palmo-Plantar Keratoderma

Aboud¹,

Aboud²

2013

Our Dermatol Online

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Historical ArticlePalmoplantar keratodermas (PPKs) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin on the palms and soles [1]. The three major patterns of involvement are diffuse, focal and punctate. There are clinical distinguishing features for each disease in this group, for example, transmigration to areas beyond the palmoplantar skin. Also the extent of associated systemic symptoms if present help in characterization of each type.Although a number of classifications of keratodermashave been published, none unite satisfactorily clinical presentation, pathology and molecular pathogenesis. We based our concise review of selected eponyms linked to PPK (Tabl. I) , on the classifications published in the current editions of two major textbooks in dermatology; Rook's Textbook of Dermatology and Dermatology by Jean L Bolognia.

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“…Among the genes placed in the contig, ALK1 was shown to be responsible for hereditary hemorrhagic telangiectasia type 2 (Johnson et al 1996), AMHR2 for persistent Mullerian duct syndrome, type II (Imbeaud et al 1995), and keratin type II genes for various genetic diseases. These keratin-associated diseases include ichthyosis bullosa of Siemens (Rothnagel et al 1994), monilethrix (Healy et al 1995;Winter et al 1997), epidermolysis bullosa simplex (Lane et al 1992), epidermolytic hyperkeratosis (Letai et al 1993), Meesmann corneal dystrophy (Irvine et al 1997), pachyonychia congenita, Jadassohn-Lewandowsky type (Bowden et al 1995), palmoplantar keratoderma, Bothnia type (Lind et al 1994;Kelsell et al 1995), white sponge nevus (Rugg et al 1995). Among these disorders, the genes for all but one, palmoplantar keratoderma, Bothnia type, were identified.…”

Section: Characteristics Of the Sts Content Map For The Region Spannimentioning

confidence: 99%

High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region

Lee¹,

Choi²,

Seomun³

et al. 2000

Genome Res.

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For those searching for human disease-causing genes, information on the position of genes with respect to genetic markers is essential. The physical map composed of ESTs and genetic markers provides the positional information of these markers as well as the starting point of gene identification in the form of genomic clones containing exons. To facilitate the effort of identification of genes in the region spanning D12S1629 and D12S312, we constructed a high-resolution transcript map with PAC/BAC/cosmid clones. The strategy for the construction of such a map involved utilization of STSs for the screening of the large insert bacterial chromosome libraries and a chromosome 12-specific cosmid library by hybridization. The contig was constructed based on the STS contents of the clones. The resulting high-resolution transcript map of the region between P273P14/SP6 and D12S312 spans 4.4 cM from 66.8 to 71.2 cM of the Généthon genetic map and represents ∼2.4 Mb. It was composed of 81 BAC, 45 PAC, and 91 cosmid clones with a minimal tiling path consisting of 16 BAC and 4 PAC clones. These clones are being used to sequence this part of chromosome 12. We determined the order of 135 STSs including 74 genes and ESTs in the map. Among these, 115 STSs were unambiguously ordered, resulting in one ordered marker per 21 kb. The order of keratin type II locus genes was determined. This map would greatly enhance the positional cloning effort of the responsible genes for those diseases that are linked to this region, including male germ cell tumor as well as palmoplantar keratoderma, Bothnian-type, and triple A syndrome. This transcript map was localized at human chromosome 12q13.

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The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Cited by 49 publications

References 0 publications

Mal de Meleda: A Focused Review

Mal de Meleda: A Focused Review

Eponyms in the dermatology literature linked to Palmo-Plantar Keratoderma

High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region

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