Sjögren: unique surname, two men, four syndromes and one disease

Abstract

Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called Sjögren's syndrome, and a fishing net aspect retinal pigmentation affecting visual acuity, nowadays known as Sjögren reticular dystrophy. The last one contributed to the understanding of Spielmeyer-Sjögren disease, Marinesco-Sjögren, and Sjögren-Larsson syndromes, all related to genetic disorders and neurological symptoms. In this paper, we aim to describe each disorder, in order to avoid any misunderstanding in diagnosis and for historical record.

Resumo

Henrik e Torsten Sjögren (/ˈʃoʊɡrən/ ou SHOH-grən) foram dois médicos suecos que viveram na mesma época, mas não tinham nenhuma relação entre si, exceto por suas notáveis contribuições à medicina. O primeiro descreveu a ceratoconjuntivite sicca, posteriormente chamada de síndrome de Sjögren, e uma pigmentação da retina com aspecto de rede de pesca que afeta a acuidade visual, hoje conhecida como distrofia reticular de Sjögren. O último contribuiu para a compreensão da doença de Spielmeyer-Sjögren, das síndromes de Marinesco-Sjögren e Sjögren-Larsson, todas relacionadas a distúrbios genéticos e sintomas neurológicos. Neste artigo, pretendemos descrever cada desordem, a fim de evitar qualquer mal-entendido no diagnóstico e para registro histórico.

Keywords

Sjogren's Syndrome - Retinal Pigment Epithelium - Sjogren-Larsson Syndrome - Neuronal Ceroid-Lipofuscinoses - Spinocerebellar Degenerations

Palavras-chave

Síndrome de Sjogren - Epitélio Pigmentado da Retina - Síndrome de Sjogren-Larsson - Lipofuscinoses Ceroides Neuronais - Degenerações Espinocerebelares

Authors' Contributions

JVAR: conceptualization, data curation, writing – original draft, writing – review & editing; FASLJ: conceptualization, data curation, writing – original draft, writing – review & editing; DPMB: investigation, resources, methodology, writing – review & editing; GLF: supervision, validation, writing – review & editing; AMTN: methodology, project administration, writing – review & editing; ASB: data curation, resources, software; HAGT: Supervision, Validation; ATM: visualization, methodology and writing – review & editing.

Publikationsverlauf

Eingereicht: 16. September 2023

Angenommen: 26. Januar 2024

Artikel online veröffentlicht:
23. April 2024

• References

• 1 Sjogren H. On knowledge of keratoconjunctivitis sicca: keratitis filiformis due to lacrimal gland hypofunction. Acta ophthalmologica. 1933; (02) 1-151
• 2 Die juvenile amaurotische Idiotie. Am J Dis Child 1933; 45 (06) 1376-1376
• 3 Ghafoor M. Sjögren's before Sjögren: did Henrik Sjögren (1899–1986) really discover Sjögren's disease?. J Maxillofac Oral Surg 2012; 11 (03) 373-374
• 4 Gougerot H. (Université de P. .Insuffisance progressive et atrophie des glandes salivaires et muqueuses de la bouche, des conjonctives (et parfois des muqueuses nasales, laryngée, vulvaire): “Sécheresse” de la bouche, conjonctives, etc. Bull Soc franç dermat et syph 1925; 32: 376-379
• 5 Rinaldi M, Villani A, Borrelli M, Russo S, Cotticelli L. Sjögren reticular dystrophy of the retinal pigment epithelium: a case report. Eur J Ophthalmol 2003; 13 (05) 491-495
• 6 Sjögren H. Dystrophia reticularis laminae pigmentosae retinae, an earlier not described hereditary eye disease. Acta Ophthalmol (Copenh) 1950; 28 (03) 279-295
• 7 Modrzejewska M, Lubiński W, Czyżewska K, Bosy-Gąsior W. Observations for Sjögren's Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy-An Extremely Rare Retinal Case Report. J Clin Med 2023; 12 (04) 1406
• 8 Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol 2013; 28 (09) 1101-1105
• 9 C Stengel. Beretning om et maerkeligt Sygdomstilfaelde hos fire Sødskende I Nærheden af Röraas. Eyr et medicinsk Tidskrift. 1826
• 10 Batten FE. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Trans Ophthalmol Soc U K 1903; 23: 386-390
• 11 Sjögren T. Die juvenile amaurotische idiotie. Hereditas 1931; 14 (03) 197-425
• 12 Alter M, Talbert OR, Croffead G. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. Neurology 1962; 12 (12) 836-847
• 13 Moravcsik E. Friedreich'sche hereditaere Ataxie.
• 14 Marinesco G, Draganesco SVD. Novelle maladie familiale caractérisée pare une cataracte congénitale et un arrêt du development somato-neurophysique. Encephale 1931; 26: 97-109
• 15 Sjögren T. Hereditary congenital spinocerebellar ataxia combined with congenital cataract and oligophrenia. Acta Psychiatr Scand 1947; 22: 286-289
• 16 Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. Confin Neurol 1950; 10 (05) 293-308
• 17 Bindu PS. Sjogren-Larsson Syndrome: Mechanisms and Management. Appl Clin Genet 2020; 13: 13-24
• 18 Sjogren T. Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macularretinal degeneration; a clinical and genetic study. Acta Genet Stat Med 1956; 6 (1 Part 2): 80-91
• 19 Sjogren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study. Acta Psychiatr Neurol Scand, Suppl 1957; 113: 1-112
• 20 Rizzo WB, Dammann AL, Craft DA. Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 1988; 81 (03) 738-744