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spastic paraplegia-facial-cutaneous lesions syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

spastic paraplegia-facial-cutaneous lesions syndrome

MONDO:0017275

Also known as:Bahemuka-Brown syndromespastic paraplegia facial cutaneous lesions

Overview

Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.

Treatments1 FDA approved

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hyperpigmentation of the skin, Urticaria, Hypopigmented skin patches, and Spasticity and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Spasticity, Difficulty walking (gait disturbance), Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for spastic paraplegia-facial-cutaneous lesions syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for spastic paraplegia-facial-cutaneous lesions syndrome, including BEXAROTENE (TARGRETIN, approved 2000).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 9 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spastic paraplegia-facial-cutaneous lesions syndrome.

134 publications have been identified in PubMed for spastic paraplegia-facial-cutaneous lesions syndrome. Research spans Review / Meta-Analysis (57%), Case Report / Case Series (16%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Research summaries	70	57%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2819

GARD

Genetic and Rare Diseases Info Center

GARD:806

Questions for Your Care Team

→What are the benefits and potential side effects of TARGRETIN for managing spastic paraplegia-facial-cutaneous lesions syndrome?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

spastic paraplegia-facial-cutaneous lesions syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

spastic paraplegia-facial-cutaneous lesions syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications