Mutilating palmoplantar keratoderma with periorificial keratotic plaques

What it is

From: Orphanet

A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

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.

Abnormal fingernail morphology · Very frequent (99-80%)

An abnormality of the fingernails.

Anhidrosis · Very frequent (99-80%)

Inability to sweat.

Ankylosis · Very frequent (99-80%)

A reduction of joint mobility resulting from changes involving the articular surfaces.

Erythema · Very frequent (99-80%)

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Palmoplantar hyperhidrosis · Very frequent (99-80%)

An abnormally increased perspiration on palms and soles.

Palmoplantar keratoderma · Very frequent (99-80%)

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

Skin fissure · Very frequent (99-80%)

A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.

Sparse hair · Very frequent (99-80%)

Reduced density of hairs.

Thickened skin · Very frequent (99-80%)

Laminar thickening of skin.

Abnormality of the dentition · Frequent (79-30%)

Any abnormality of the teeth.

Carious teeth · Frequent (79-30%)

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

Hypodontia · Frequent (79-30%)

The absence of five or less teeth from the normal series by a failure to develop.

Sensorineural hearing impairment · Frequent (79-30%)

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Skin ulcer · Frequent (79-30%)

A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormal oral mucosa morphology (Occasional (29-5%)); Abnormality of the gingiva (Occasional (29-5%)); Abnormality of the tongue (Occasional (29-5%)); Alopecia (Occasional (29-5%)); Melanoma (Occasional (29-5%)); Neoplasm of the lung (Occasional (29-5%)); Neoplasm of the skin (Occasional (29-5%)); Osteolysis (Occasional (29-5%)); Seizure (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Not applicable; X-linked recessive

Frequency and the population described

From: Orphanet

Reported case(s): 73.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Mutilating palmoplantar keratoderma with periorificial keratotic plaques 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 Mutilating palmoplantar keratoderma with periorificial keratotic plaques. 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.