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Related Experiment Video

Updated: May 22, 2026

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

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Published on: September 7, 2013

Familial progressive hypo- and hyperpigmentation: a variant case.

Ru-zhi Zhang¹, Wen-yuan Zhu

¹The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Indian Journal of Dermatology, Venereology and Leprology

|May 9, 2012

Summary

This summary is machine-generated.

Familial progressive hyper- and hypopigmentation (FPHH) presents with varied skin pigmentation. This report details a unique FPHH case in a child with seizures and nail changes, but no lentigines.

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Area of Science:

Genetics and Dermatology
Rare Genetic Disorders

Background:

Familial progressive hyper- and hypopigmentation (FPHH) is a rare genetic disorder.
It is characterized by widespread skin pigmentation abnormalities, including hyperpigmented and hypopigmented macules.
Cafe-au-lait macules and ash-leaf macules are common features.

Observation:

A two-year-old Chinese girl presented with a variant form of FPHH.
The patient exhibited diffuse hyper- and hypopigmented skin lesions.
Additional clinical features included longitudinal melanonychia in both thumbs and infantile seizures.

Findings:

The reported case presented with a unique constellation of symptoms.
Notably, the patient lacked the lentigines typically observed in FPHH.
The presence of infantile seizures alongside pigmentary changes suggests a broader phenotypic spectrum.

Implications:

This case expands the known clinical spectrum of FPHH.
It highlights the importance of considering neurological manifestations in FPHH.
Further research into the genetic basis of FPHH variants is warranted.