Scalp-ear-nipple syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.

Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but that heal during childhood.

The external ears of people with scalp-ear-nipple syndrome may be small, cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally normal. Affected individuals also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia).

Other features that can occur in this disorder include malformed and brittle fingernails and toenails (nail dystrophy), dental abnormalities including widely-spaced or missing teeth, fusion of the skin between some of the fingers and toes (cutaneous syndactyly), and kidney defects such as underdevelopment (hypoplasia) of one or both kidneys. Unusual facial features, including narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), a flat bridge of the nose, and nostrils that open to the front rather than downward (anteverted nares), can also occur in this disorder.

ORPHANET DEFINITION A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 30.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

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 antihelix · Very frequent (99-80%)

An abnormality of the antihelix.

Abnormality of the scalp · Very frequent (99-80%)

Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.

Abnormality of the skin · Very frequent (99-80%)

An abnormality of the skin.

Breast aplasia · Very frequent (99-80%)

Failure to develop and congenital absence of the breast.

Microtia · Very frequent (99-80%)

Underdevelopment of the external ear.

Small earlobe · Very frequent (99-80%)

Reduced volume of the earlobe.

Sparse hair · Very frequent (99-80%)

Reduced density of hairs.

Underdeveloped antitragus · Very frequent (99-80%)

Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.

Underdeveloped tragus · Very frequent (99-80%)

Decreased posterolateral protrusion of the tragus.

Aplasia/Hypoplasia of the nipples · Very frequent (99-80%)

Abnormal fingernail morphology · Frequent (79-30%)

An abnormality of the fingernails.

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

Any abnormality of the teeth.

Cataract · Frequent (79-30%)

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Delayed eruption of teeth · Frequent (79-30%)

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

Other findings in the same source

From: Orphanet

Additional reported features include Hypertension (Frequent (79-30%)); Palpebral edema (Frequent (79-30%)); Recurrent urinary tract infections (Frequent (79-30%)); Telecanthus (Frequent (79-30%)); Type I diabetes mellitus (Frequent (79-30%)); Abnormality of the kidney (Occasional (29-5%)); Duplication of renal pelvis (Occasional (29-5%)); Eyelid coloboma (Occasional (29-5%)); Hypohidrosis (Occasional (29-5%)); Pyelonephritis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 30.0; 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 Scalp-ear-nipple syndrome is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

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.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Scalp-ear-nipple syndrome. 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.