Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]
, 2017 INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa +16 more
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Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma
Case Reports in Medicine, 2010 Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles. Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature. We report a
Sara Lestre +3 more
doaj +1 more source
Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia
Clinical Case Reports, 2022 Rapp–Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS.
Wissal Abdelli +6 more
doaj +1 more source
Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]
Clin Case RepABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Dababseh BH +5 more
europepmc +2 more sources
Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. [PDF]
, 2019 Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats.
Costaguta, Giancarlo +2 more
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Mal de Meleda : a case successfully treated with acitretin
PAMJ Clinical Medicine, 2020 Mal de Meleda (MdM) is an autosomal recessive form of palmoplantar keratoderma, that is characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Kaoutar Achehboune +3 more
doaj +1 more source
Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]
, 2015 Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis +28 more
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Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
, 2011 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 more
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Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Indian Journal of Dermatology, 2019 Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
doaj +1 more source
A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]
, 2012 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M +3 more
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