Autosomal dominant palmoplantar keratoderma and congenital alopecia

What it is

From: Orphanet

A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

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 nail morphology · Very frequent (99-80%)

Abnormal structure or appearance of the nail.

Nail dystrophy · Very frequent (99-80%)

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Palmoplantar keratoderma · Very frequent (99-80%)

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

Sparse eyebrow · Very frequent (99-80%)

Decreased density/number of eyebrow hairs.

Sparse eyelashes · Very frequent (99-80%)

Decreased density/number of eyelashes.

Sparse scalp hair · Very frequent (99-80%)

Decreased number of hairs per unit area of skin of the scalp.

Digital constriction ring · Frequent (79-30%)

A narrow segment of significantly reduced circumference of a digit.

Dry skin · Frequent (79-30%)

Skin characterized by the lack of natural or normal moisture.

Flexion contracture of finger · Frequent (79-30%)

Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.

Generalized hypotrichosis · Frequent (79-30%)

Reduced or lacking hair growth in a generalized distribution.

Keratosis pilaris · Frequent (79-30%)

An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

Ridged nail · Frequent (79-30%)

Longitudinal, linear prominences in the nail plate.

Sclerodactyly · Frequent (79-30%)

Localized thickening and tightness of the skin of the fingers or toes.

Absent eyebrow · Occasional (29-5%)

Absence of the eyebrow.

Other findings in the same source

From: Orphanet

Additional reported features include Facial erythema (Occasional (29-5%)); Meningocele (Occasional (29-5%)); Nuclear cataract (Occasional (29-5%)); Poor wound healing (Occasional (29-5%)); Scaling skin (Occasional (29-5%)); Skin fissure (Occasional (29-5%)); Trichorrhexis nodosa (Occasional (29-5%)); Unilateral deafness (Occasional (29-5%)); Absent hair (Occasional (29-5%)); Photophobia (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Reported case(s): 10.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

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 Autosomal dominant palmoplantar keratoderma and congenital alopecia 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 Autosomal dominant palmoplantar keratoderma and congenital alopecia. 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.