Lipodystrophy due to peptidic growth factors deficiency

What it is

From: Orphanet

A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.

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 the face · Very frequent (99-80%)

An abnormality of the face.

Cachexia · Very frequent (99-80%)

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

Convex nasal ridge · Very frequent (99-80%)

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

Flexion contracture · Very frequent (99-80%)

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Joint stiffness · Very frequent (99-80%)

Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.

Lipoatrophy · Very frequent (99-80%)

Localized loss of fat tissue.

Lipodystrophy · Very frequent (99-80%)

Degenerative changes of the fat tissue.

Micrognathia · Very frequent (99-80%)

Developmental hypoplasia of the mandible.

Narrow mouth · Very frequent (99-80%)

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Palmoplantar keratoderma · Very frequent (99-80%)

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

Pectus excavatum · Very frequent (99-80%)

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

Pes planus · Very frequent (99-80%)

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

Reduced subcutaneous adipose tissue · Very frequent (99-80%)

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.

Thickened skin · Very frequent (99-80%)

Laminar thickening of skin.

Other findings in the same source

From: Orphanet

Additional reported features include Weight loss (Very frequent (99-80%)); Aplasia/Hypoplasia of the skin (Very frequent (99-80%)); Lack of skin elasticity (Very frequent (99-80%)); Abnormal circulating lipid concentration (Frequent (79-30%)); Abnormal thorax morphology (Frequent (79-30%)); Abnormality of skin pigmentation (Frequent (79-30%)); Abnormality of the hair (Frequent (79-30%)); Abnormality of the lower limb (Frequent (79-30%)); Abnormality of the upper limb (Frequent (79-30%)); Atherosclerosis (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Unknown

Frequency and the population described

From: Orphanet

Reported family(ies): 1.0; 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 Lipodystrophy due to peptidic growth factors deficiency is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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 hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Lipodystrophy due to peptidic growth factors deficiency. 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.