1990
DOI: 10.1001/archderm.126.10.1342
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Richner-Hanhart's syndrome. Electron microscopic study of the skin lesion

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Cited by 8 publications
(6 citation statements)
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“…By electron microscopy, however, varying, but characteristic features have been described. In our patient, we confirmed findings of an increased amount of tonofibrils, which appeared condensed particularly in the granular layer, 8,9 as well as the more globoid appearance of the keratohyaline granules laterally attached to the tonofibrils referred to as ‘dew drops on a blade of grass’ 8 …”
Section: Resultssupporting
confidence: 86%
“…By electron microscopy, however, varying, but characteristic features have been described. In our patient, we confirmed findings of an increased amount of tonofibrils, which appeared condensed particularly in the granular layer, 8,9 as well as the more globoid appearance of the keratohyaline granules laterally attached to the tonofibrils referred to as ‘dew drops on a blade of grass’ 8 …”
Section: Resultssupporting
confidence: 86%
“…These crystals are thought to cause cell injury, with the rupture and the fusion of two or more keratinocytes, resulting in the eye abnormalities. In an electron microscopy study, smaller crystals were found also in the spinous cell cytoplasm of the affected human epidermis (9). One hypothesis to explain the cutaneous lesions is that tyrosine causes abnormal, noncovalent cross‐links among keratins with an erroneous tonofilament aggregation (10).…”
Section: Discussionmentioning
confidence: 99%
“…Tyrosinemia type II with features confined to the skin has been reported previously. 13 , 14 The typical dermatologic findings are painful, well-demarcated hyperkeratosis on the palms and soles, although the palms can be unaffected. 15 , 16 On the palms the distribution usually involves the fingertips, and the thenar and hypothenar eminences, while the lesions on the soles are on the weight-bearing areas.…”
Section: Discussionmentioning
confidence: 99%
“… 17 Age at onset of skin lesions can range from the first week of life to the second decade. 13 , 15 , 16 , 18 , 19 Ocular manifestations can develop as early as the first day of life and alternatively may present for the first time as late as the fourth decade. Early signs are photophobia, pain, tearing and redness, while late signs include corneal clouding and central or paracentral opacities, superficial or deep dendritic ulceration, corneal neovascularization, and corneal scars.…”
Section: Discussionmentioning
confidence: 99%
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