Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.

Palmoplantar keratoderma is a complex skin condition with diverse clinical presentations and genetic factors, making diagnosis challenging and sparking the need for comprehensive genetic testing.
This study collected data from 142 patients over several years to understand the different types and genetic causes of palmoplantar keratoderma by examining clinical features and performing genetic sequencing.
Results revealed that a significant proportion (83%) of families had identifiable genetic variants, with the most common variant linked to the AAGAB gene, affecting the majority of participants who presented with a punctate subtype of the condition.

Pediatr Dermatol

November 2024

Department of Internal Medicine, Division of Dermatology, Dell Medical School, University of Texas, Austin, Texas, USA.

PLACK syndrome is a rare genetic skin condition associated with symptoms like peeling skin, white nails, and knuckle pads, caused by mutations in the CAST gene that affects a specific protease.
This case report discusses a patient with PLACK syndrome who showed unusual palm hyperkeratosis and developed serious heart issues, specifically cardiomyopathy.
The report emphasizes the need to understand how CAST mutations can affect heart health and highlights the possible links between PLACK syndrome and cardiac problems.

JAAD Case Rep

July 2024

Department of Dermatology, University of Michigan, Ann Arbor, Michigan.

Am J Dermatopathol

July 2024

Department of Dermatology, Yale School of Medicine, New Haven, CT.

- Spiny keratoderma is a rare skin condition characterized by small, spiny growths on the palms and soles, which can be inherited or acquired.
- The acquired form may be linked to other health issues but not necessarily to cancer, and it can be confused with similar skin conditions like arsenical keratosis.
- This article discusses three cases of acquired spiny keratoderma in patients with different systemic diseases, highlighting that none had underlying malignancies.

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