Pediatric Dermatology Consult

What's the diagnosis?

Publish date: October 17, 2023

Picture 1

A 14-year-old presents with her mother for consultation regarding lesions on the heels for a few months. She has noticed an increase in lesions over time. The lesions are not tender or symptomatic. She also reports elastic skin on the arms and neck and can oppose her thumb to the dorsum of the hands and extend her thumb to touch her wrist.

Picture 2

The patient reports no prior history of fractures or dislocations, no large bruises, abnormal healing, or scars. She has no history of umbilical, abdominal wall, or inguinal hernias, and she has no vision defects or deafness. A thorough review of systems was negative. Her mom has similar findings of lesions on the heels and hypermobility but no history of hernias, organ prolapse, or abnormal skin healing. There is no family history of heart defects. She is not taking medications, and her vaccinations are up to date.

On a physical exam, she has several skin-colored soft papules on the heels when she stands up (Picture 1).

Picture 3

Her skin is slightly more elastic, allowing it to be pulled about 2 inches from the neck and the arms. She can oppose her flexed thumb to the dorsum of the hand (Picture 2), and she can hyperextend her thumb to touch her wrist (Picture 3).

She is not able to touch the floor without bending her knees, and she has normal extension of her arms and knees. She has no bruises or abnormal scars and has some striae on her legs.

The lesions on the heels are consistent with piezogenic pedal papules. Piezogenic pedal papules are a relatively common and underreported skin condition that can affect people of all ages, including adolescents. They seem to be more common in women and have been described in families, though a genetic link hasn’t been elucidated. PPP manifests as small, soft, compressible papules on the lateral aspects of the skin on the heels, more noticeable when the patient is standing, and can also present on the wrists and legs. While they may not be a cause for serious concern, understanding their causes, associated conditions, and management is important.

Piezogenic pedal papules are flesh-colored or slightly reddish and can range in size from a few millimeters to a centimeter or more. They are described as benign herniations of elastic tissue and subcutaneous fat through the reticular dermis. The lesions are triggered by increased pressure and compression, such as standing or the application of pressure on the heel. The exact etiology is not known. While piezogenic pedal papules are often asymptomatic, some individuals experience discomfort, itching, or mild pain, particularly when walking or applying pressure to the affected area, especially in patients with Ehlers-Danlos syndrome (EDS).

Individuals who may be at risk of developing these lesions include obese patients, individuals with pes planus, and people who have occupations that require long periods of standing. It can also be seen in athletes who participate in long-distance running or high-impact sports. Piezogenic pedal papules have been described as one of the core skin findings in patients with hypermobile Ehlers-Danlos syndrome (hEDS), which also includes skin hyperextensibility, joint hypermobility, tissue fragility with atrophic cutaneous scars, and abnormal bruising and bleeding. Our patient presented with some of these characteristics (piezogenic papules, soft elastic skin, and some joint hypermobility) but did not fulfill all the criteria for the diagnosis of hEDS or other types of EDS.

The diagnosis of hEDS is based on the 2017 diagnostic criteria checklist. To be diagnosed with hEDS, the patient may have all three parts of the diagnostic criteria. The three domains include generalized joint hypermobility (partially met by our patient), evidence of syndromic features, musculoskeletal complications, and/or family history (she had a few of these criteria, including piezogenic papules and striae), and the exclusion of alternative diagnoses (see references for the PDF checklist). As she does have some features, we diagnosed her with hypermobility spectrum disorder. There is no genetic testing available for the hypermobile spectrum disorder or the hypermobile type of EDS. Given that these patients can present with mitral valve prolapse, she was referred to a cardiac echocardiogram, which was reported as normal.

The diagnosis of PPP is made clinically, and rarely a biopsy is required. Biopsies of the lesions show hyperkeratosis, degeneration of the thin fibrous septa between fat lobules, and subsequent coalescence of fat. If the presentation is atypical, a high-frequency ultrasound can be requested to confirm the physical exam findings.

If the lesions are fixed, firm, and solitary, a diagnosis to consider is juvenile aponeurotic fibroma, which occurs more often in children and adolescents on the wrists and is less common on the ankles. If there is suspicion for this condition, a plain radiograph will show stippled calcifications.

PPP are usually asymptomatic and need no further treatment. When they are symptomatic, conservative management should be considered first, which includes behavioral modifications, weight loss, avoidance of prolonged standing, and reduced foot trauma. If these are not successful, compression socks, heel cups, and other orthotics can be recommended. Intralesional injections of betamethasone and bupivacaine have been reported as an option in patients with symptomatic PPP and a history of EDS.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.

	Ehlers-Danlos classic type
	Marfan syndrome
	Ehlers-Danlos hypermobility syndrome
	Piezogenic pedal papules
	Pseudoxanthoma elasticum

What's the diagnosis?

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