Punctate palmoplantar keratoderma type 1

What it is

From: Orphanet

A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of epidermal morphology · Very frequent (99-80%)

An abnormality of the morphology of the epidermis.

Hyperkeratotic papule · Very frequent (99-80%)

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).

Palmoplantar hyperkeratosis · Very frequent (99-80%)

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

Palmoplantar keratoderma · Very frequent (99-80%)

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

Epidermal acanthosis · Frequent (79-30%)

Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).

Hypergranulosis · Frequent (79-30%)

Hypergranulosis is an increased thickness of the stratum granulosum.

Orthokeratosis · Frequent (79-30%)

Formation of an anuclear keratin layer

Breast carcinoma · Occasional (29-5%)

The presence of a carcinoma of the breast.

Esophageal neoplasm · Occasional (29-5%)

A tumor (abnormal growth of tissue) of the esophagus.

Melanoma · Occasional (29-5%)

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).

Pain · Occasional (29-5%)

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.

Verrucous papule · Occasional (29-5%)

A wartlike (with multiple small elevated projections) papule.

Adenocarcinoma of the small intestine · Very rare (<4-1%)

A malignant epithelial tumor with a glandular organization that originates in the small intestine.

Basal cell carcinoma · Very rare (<4-1%)

The presence of a basal cell carcinoma of the skin.

Other findings in the same source

From: Orphanet

Additional reported features include Brain neoplasm (Very rare (<4-1%)); Hodgkin lymphoma (Very rare (<4-1%)); Nail dystrophy (Very rare (<4-1%)); Neoplasm of the lung (Very rare (<4-1%)); Neoplasm of the skeletal system (Very rare (<4-1%)); Pancreatic adenocarcinoma (Very rare (<4-1%)); Prostate cancer (Very rare (<4-1%)); Renal cell carcinoma (Very rare (<4-1%)); Squamous cell carcinoma (Very rare (<4-1%)); Stomach cancer (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Reported case(s): 437.0; Worldwide. This is a published case count, not prevalence. Point prevalence: 1-9 / 100 000; Croatia; Value and class. Point prevalence: 1-9 / 100 000; Slovenia; Value and class. Point prevalence: 1-9 / 100 000; Europe; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Punctate palmoplantar keratoderma type 1 is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Punctate palmoplantar keratoderma type 1. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.