A rare cause of extreme skin fragility

Wound and healing

Dr. Emmanuelle Bourrat

Saint-Louis Hospital

The clinical case
Now it's your turn!
Co-prescription and advice

Clinical case presentation

This 24-year-old man, with no previous history, who had played amateur football since childhood, was forced to stop his sporting activity because, for several months, minor traumas had been causing serious skin wounds: skin tears as well as tears of the subcutaneous layers requiring multiple sutures.

As he had a vague notion of poor healing in his mother, he was immediately referred to a genodermatosis consultation for suspected monogenic connective tissue disease. He reported a recent weight gain attributed to the cessation of sport and headaches that had led to the discovery of arterial hypertension. Clinical examination revealed:

Abdominal obesity and facial puffiness, bilateral gynecomastia.
Acne and stretch marks on the trunk.
Asthenia and muscle wasting.
Absence of bruising, cutaneous hyperelasticity or cutaneous-articular laxity.
Numerous dystrophic scars on the lower limbs.
Absence of spontaneous or induced cutaneous or mucosal bullae.

Your turn

What is your diagnosis?

Select 1 answer(s) from the following choices:

Ehlers–Danlos syndrome (EDS)

Cushing’s syndrome

Localized dystrophic epidermolysis bullosa

Factitious disorder

Wrong answer!

Good answer!

Selected diagnosis

In the face of this pathological skin fragility acquired in adulthood, extracutaneous signs point to a systemic disease, and more specifically to hypercorticism. Questioning revealed no occult intake of corticosteroids or misuse of topical corticosteroids.

A hormonal work-up revealed marked hypercortisolemia without an increase in ACTH: this was therefore an ACTH-independent Cushing’s syndrome, confirmed by a normal pituitary MRI and the presence of an adrenal adenoma on the thoraco-abdomino-pelvic CT scan.

This observation is a reminder that excessive skin fragility can reveal hypercorticism, the mucocutaneous signs of which are as follows:

Cutaneous and vascular fragility: skin atrophy, ecchymosis, wounds and slow healing, facial erythrosis, telangiectasias, stretch marks.
Signs of hyperandrogenism in women (hirsutism, hyperseborrhea, acne, alopecia) or virilisation (hoarseness of voice, clitoral hypertrophy).
Mucocutaneous infections..
Melanoderma in ACTH-dependent Cushing’s disease.

Explanation of wrong answers

Hematomas, dystrophic scars and post-traumatic or iatrogenic skin tears (surgical sutures) are frequently present in Ehlers-Danlos syndromes (classical and vascular), but other cutaneous and extracutaneous signs do not point to a primary connective tissue pathology.
The absence of spontaneous or provoked bullae rules out a diagnosis of dystrophic epidermolysis bullosa.
Any single or multiple, acute or chronic wound may be the result of self-harm, but factitious disorder should be diagnosed only after excluding other causes.

Treatment

Surgical treatment of adrenal adenoma.

Message from the expert

Cutaneous fragility does not necessarily indicate dermoepidermal junction or elastic tissue disease: hypercorticism, whatever its cause, induces cutaneous atrophy, sometimes spectacularly so, as in this observation.

References:

^{Stratakis CA, Mastorakos G, Mitsiades NS, et al.}^{Skin manifestations of Cushing disease in children and adolescents before and after the resolution of hypercortisolemia.}^{Pediatr Dermatol. 1998;15:253-8}