Touraine–Solente–Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis

Akaranuchat, Nutthawut; Limsuvan, Papassorn

doi:10.1016/j.jpra.2019.04.004

Cited by 6 publications

(9 citation statements)

References 9 publications

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“…The exact cause of PDP is yet not known. 7 In familial PDP cases, homozygous and compound heterozygous germ line mutations in the HPGD gene is detected, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH). Prostaglandin degradation mainly depend upon 15-PGDH and when it gets defective or absent, it results in excessive levels of prostaglandins, particularly PGE2 which contribute to the pathogenesis of PDP.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations

Wali¹,

Majeed²,

Suriho³

2022

pak J Ophthalmol

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A case of 56 yearsold Pakistani male visited OPD with complaint of thickening of both eyelids, ptosis and left lower lid ectropion caused by rare condition named pachydermoperiostosis (PDP). PDP is a rare autosomal dominant condition but autosomal recessive families probably can also occur. It is manifested by clubbing of digits, hyperhidrosis of palm and feet, peri-ostosis, acro-osteolysis and pachydermia. Ocular features include blepharoptosis, floppy eyelids, eyelid and palpebral conjunctival hypertrophy, mechanical ectropion, meibomian gland dysfunction, tear film abnormalities, punctate epithelial erosions and ocular surface disease. Surgical management was given by full-thickness wedge resection leading to horizontal tightening and this was done along with shortening of levator and its advancement. Histopathology demonstrated chronic non-specific inflammation and foreign body giant cell reaction.

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Section: Discussionmentioning

confidence: 99%

A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations

Wali¹,

Majeed²,

Suriho³

2022

pak J Ophthalmol

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“…Patchydermoperiostosis also called idiopathic hypertrophic osteoarthropathy is a rare genetic disorder commonly affecting young males characterized by digital clubbing, periostosis (abnormal proliferation of periosteal bone), pachydermia (skin thickening) and hyperhidrosis (excessive sweating) [ 163 , 164 , 165 ]. It is also known as Tourain-Solente-Gole syndrome, named after the three dermatologists who recognized this condition as a familial disorder [ 164 , 165 , 166 ].…”

Section: Disorders Of Bone Matrix and Cartilage Formationmentioning

confidence: 99%

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Charoenngam

Nasr

Shirvani

et al. 2022

Genes

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Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.

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“…La paquidermoperiostosis primaria o idiopática es una genodermatosis rara que se presenta una osteoartropatía hipertrófica de origen genético, con un carácter autosómico dominante y penetración variable con predominio en hombres, aunque no se ha encontrado aún el cromosoma responsable y se detectan antecedentes familiares entre el 25-38 % de los pacientes 1,2 .…”

Section: Introductionunclassified

“…La paquidermoperiostosis secundaria, su otra forma clínica, se debe a varias etiologías como enfermedades pulmonares, adenocarcinomas, carcinoma epidermoide bronquial, mesotelioma pleural abscesos pulmonares, carcinomas esofágicos y gástricos, la hipertrofia gástrica con desarrollo de ulcera gástrica (Enfermedad de Menetrier); los carcinomas tímicos, osteosarcomas, leucemia mieloide y el pénfigo paraneoplasico constituyen otras causas 2 .…”

Section: Introductionunclassified

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Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

Medina

Guerra

Liens³

et al. 2020

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Two cases occur in the same family (siblings) of 30 and 16 years of age with a diagnosis of primary pachydermoperiostosis or Touraine-Solente-Goulé Syndrome (TSG), an uncommon condition, characterized by pachydermia, periostosis and pachydactyly, which can be idiopathic, with onset at puberty, of genetic origin, autosomal dominant transmission. These brothers come to the internal medicine office of the Carlos Manuel de Céspedes hospital complaining of joint pain with skin and osteoarticular manifestations, consulting with the dermatology service considering the diagnosis of this rare syndrome and conducting relevant studies and after its conclusion makes the clinical report for publication because it is the first case reported in our province.

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Touraine–Solente–Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis

Cited by 6 publications

References 9 publications

A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations

A Rare Case of Pachydermoperisotosis (PDP) and Its Ocular Manifestations

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

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