Mucous nodules and cutaneous papules

Paediatric dermatology
Mucosal pathology

Dr. Emmanuelle Bourrat

Saint-Louis Hospital

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

Clinical case presentation

A 1-year-old girl, the first child of a consanguineous couple, was admitted to the hospital with axial and peripheral stiffness and painful contractures that had been present since birth. There was also anal swelling due to severe constipation and nodular gingival hyperplasia interfering with feeding.

Despite morphine treatment, the young patient remained totally immobile and unable to move without pain. A dermatological opinion was sought because of dyschromic micropapular plaques on the nape of the neck, intergluteal fold, chin and ears.

Your turn

What is your diagnosis?

Select 1 answer(s) from the following choices:

Infantile hyaline fibromatosis

Mucopolysaccharidosis

Vitamin C deficiency

Lipoid proteinosis or Urbach-Wiethe disease

Wrong answer!

Good answer!

Selected diagnosis

The combination of painful arthrogryposis with gingival and anal mucosal nodules and a bipolar micropapular skin rash (head and buttocks) is highly suggestive of infantile hyaline fibromatosis. This diagnostic hypothesis was quickly confirmed by:

a skin biopsy showing edematous hyaline deposits in the dermis lifting the epidermis
targeted sequencing of the ANTXR2 gene revealing a homozygous mutation.

The symptoms of this very rare genetic disease are explained by extracellular hyaline deposits in the skin, mucous membranes and subcutaneous tissues, giving rise to papules, nodules and joint contractures. Systemic involvement, most often digestive (villous atrophy, lymphangiectasia), characterizes the most severe forms, often congenital in onset and frequently lethal. Mucocutaneous and articular forms are compatible with survival into adulthood, at the cost of severe chronic pain and major functional impairment.

Explanation of wrong answers

Mucopolysaccharidoses are lysosomal storage diseases caused by enzyme deficiencies responsible for the accumulation of mucopolysaccharides in various organs, including the skin and joints. Diffuse Mongolian spots are the most characteristic cutaneous sign.
Bone involvement is often the main feature of vitamin C deficiency in young children, in the form of very painful functional impairment of the lower limbs. Associated hemorrhagic gingival hyperplasia may suggest the diagnosis, but the skin involvement (follicular purpura) is different from that seen in this case.
Lipoid proteinosis, or Urbach-Wiethe disease, is also a storage disorder caused by the deposition of amorphous hyaline material in the skin, mucous membranes and viscera, but the clinical presentation is different. The most characteristic features are early-onset hoarseness (involvement of the larynx), a crusting then scarring dermatosis and yellowish beaded nodules along the free margin of the eyelids.