Results 81 to 90 of about 5,874 (223)
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]
, 2008 Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando +4 more
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Skin Signs of Systemic Disease [PDF]
, 1976 The subject of this Mcguire Lecture series, the skin, is a relatively enormous organ vulnerable to an enormous variety of external and internal insults. Its total visibility is both a blessing and a curse.
Scoggins, Robert B.
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Kindler Syndrome: A Case Report From a Developing Country
Clinical Case Reports, Volume 13, Issue 11, November 2025.ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco +7 more
wiley +1 more source
Differential gene expression analysis in patients with primary hyperhidrosis
International Journal of Applied and Experimental BiologyHyperhidrosis, a condition of excessive sweat generation, is believed to be genetic, but it is yet not known well whether primary hyperhidrosis is regulated by a single gene or multiple genes. The prospective genes that regulate primary hyperhidrosis are
Ting Pu +6 more
doaj +1 more source
JA Clinical Reports, 2018 Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease characterized by unexplained fever, systemic insensitivity to pain, anhidrosis, and mental distress.
Yoko Takeuchi +5 more
doaj +1 more source
William John Adie: the man behind the syndrome [PDF]
, 2014 William John Adie was an Australian neurologist in the early 20th century responsible for extensively describing the tonically dilated pupil associated with absent deep tendon reflexes – both features of a syndrome that now bears his name. In addition to
Clarke, Jonathan C +2 more
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Dermatopathia pigmentosa reticularis
Indian Journal of Dermatology, 2019 Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia that presents with a triad of reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy.
Adrija Datta +3 more
doaj +1 more source
SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain : a case report
, 2017 Background: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities.
Cauwels, Rita +3 more
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Angiokeratoma of tongue:a series of 14 cases [PDF]
, 2006 Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
Ahmed, Rashid +7 more
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