FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4247228257> ?p ?o ?g. }

• W4247228257 endingPage "149" @default.
• W4247228257 startingPage "147" @default.
• W4247228257 abstract "The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made. Figure 1Open in figure viewerPowerPoint The patient had generalized excessively fair skin when compared with her parents. She had silver-gray hair and white eyebrows and body hair. Figure 2Open in figure viewerPowerPoint Microscopic examination of the patient's hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Figure 3Open in figure viewerPowerPoint Hematoxylin and eosin stain tests (original magnification ×40) revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin, while the adjacent keratinocytes had very little melanin." @default.
• W4247228257 created "2022-05-12" @default.
• W4247228257 creator A5017790359 @default.
• W4247228257 creator A5040708932 @default.
• W4247228257 creator A5065141785 @default.
• W4247228257 date "2007-03-01" @default.
• W4247228257 modified "2023-09-26" @default.
• W4247228257 title "Griscelli Syndrome" @default.
• W4247228257 cites W1987945386 @default.
• W4247228257 cites W2011505204 @default.
• W4247228257 cites W2017222087 @default.
• W4247228257 cites W2033851255 @default.
• W4247228257 cites W2060035117 @default.
• W4247228257 cites W2123760009 @default.
• W4247228257 cites W2138103297 @default.
• W4247228257 cites W2142285934 @default.
• W4247228257 cites W2146940742 @default.
• W4247228257 cites W4242101551 @default.
• W4247228257 doi "https://doi.org/10.1111/j.1540-9740.2007.05783.x" @default.
• W4247228257 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17483661" @default.
• W4247228257 hasPublicationYear "2007" @default.
• W4247228257 type Work @default.
• W4247228257 citedByCount "4" @default.
• W4247228257 countsByYear W42472282572021 @default.
• W4247228257 crossrefType "journal-article" @default.
• W4247228257 hasAuthorship W4247228257A5017790359 @default.
• W4247228257 hasAuthorship W4247228257A5040708932 @default.
• W4247228257 hasAuthorship W4247228257A5065141785 @default.
• W4247228257 hasConcept C16005928 @default.
• W4247228257 hasConcept C71924100 @default.
• W4247228257 hasConceptScore W4247228257C16005928 @default.
• W4247228257 hasConceptScore W4247228257C71924100 @default.
• W4247228257 hasIssue "3" @default.
• W4247228257 hasLocation W42472282571 @default.
• W4247228257 hasLocation W42472282572 @default.
• W4247228257 hasOpenAccess W4247228257 @default.
• W4247228257 hasPrimaryLocation W42472282571 @default.
• W4247228257 hasRelatedWork W184671994 @default.
• W4247228257 hasRelatedWork W194444262 @default.
• W4247228257 hasRelatedWork W1973419475 @default.
• W4247228257 hasRelatedWork W1988610970 @default.
• W4247228257 hasRelatedWork W2042427363 @default.
• W4247228257 hasRelatedWork W2055168027 @default.
• W4247228257 hasRelatedWork W2067151627 @default.
• W4247228257 hasRelatedWork W2409655665 @default.
• W4247228257 hasRelatedWork W2521347769 @default.
• W4247228257 hasRelatedWork W3032811427 @default.
• W4247228257 hasVolume "6" @default.
• W4247228257 isParatext "false" @default.
• W4247228257 isRetracted "false" @default.
• W4247228257 workType "article" @default.