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Diffuse slow skin atrophy

MedGen UID:
870415
•Concept ID:
C4024860
•
Finding
HPO: HP:0007504

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse slow skin atrophy

Conditions with this feature

Progressive recessive dystrophic epidermolysis bullosa
MedGen UID:
78666
•Concept ID:
C0268368
•
Congenital Abnormality
See: Condition Record
Progressive recessive dystrophic epidermolysis bullosa

Recent clinical studies

Etiology

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.
Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK
J Neurol Sci 2007 Jan 15;252(1):16-23. Epub 2006 Dec 12 doi: 10.1016/j.jns.2006.09.021. PMID: 17166519

Diagnosis

Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment.
Sugiyama A, Nishigori C, Tsujimoto M, Togawa Y, Kuwabara S
Neurology 2022 Oct 4;99(14):618-624. Epub 2022 Aug 2 doi: 10.1212/WNL.0000000000201065. PMID: 35918170
Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.
Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK
J Neurol Sci 2007 Jan 15;252(1):16-23. Epub 2006 Dec 12 doi: 10.1016/j.jns.2006.09.021. PMID: 17166519
Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities.
Amano R, Ohtsuka Y, Ohtahara S
Pediatr Neurol 1995 Apr;12(3):255-9. doi: 10.1016/0887-8994(95)00025-b. PMID: 7619196

Therapy

Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment.
Sugiyama A, Nishigori C, Tsujimoto M, Togawa Y, Kuwabara S
Neurology 2022 Oct 4;99(14):618-624. Epub 2022 Aug 2 doi: 10.1212/WNL.0000000000201065. PMID: 35918170

Clinical prediction guides

Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment.
Sugiyama A, Nishigori C, Tsujimoto M, Togawa Y, Kuwabara S
Neurology 2022 Oct 4;99(14):618-624. Epub 2022 Aug 2 doi: 10.1212/WNL.0000000000201065. PMID: 35918170
Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.
Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK
J Neurol Sci 2007 Jan 15;252(1):16-23. Epub 2006 Dec 12 doi: 10.1016/j.jns.2006.09.021. PMID: 17166519
Startle-induced epilepsy in a patient with epidermal nevus syndrome.
Sasaki M, Matsuda H, Arai Y, Hashimoto T
Pediatr Neurol 1998 Apr;18(4):346-9. doi: 10.1016/s0887-8994(97)00191-4. PMID: 9588533

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