[source]
pmid = PMID:30050362
title = Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation
[diagnosis]
disease_id = OMIM:228600
disease_label = Hyaline fibromatosis syndrome
[text]
The patient was an Asian 10-month-old male (individual II-3 in Figure 1) who was bom full term with a birth weight of
3.75 kg (66 percentile). His parents were half-first cousins and had 2 healthy daughters (Figure 1).
The proband had mild contractures in major joints at birth but was otherwise noted to be healthy.
At 5 months of age, his joint contractures had progressively worsened and were associated with pain in his wrists,
elbows, shoulders, hips, knees, and ankles. Concurrently, he developed dark brown/black spots on his knuckles, ankles,
back, and neck. Initially, arthrogryposis was suspected, and so he received physical therapy, which resulted in a femur fracture.
At that time, he also developed persistent protein-losing enteropathy with significant weight loss.
He came to the USA for additional medical care at the age of 10 months. According to the family,
there were no other family members who had similar symptoms as the patient.
On presentation, the most striking features were the severe malnutrition (5 kg; <3 percentile) and constant irritability.
On physical examination, significant joint contractures of the wrists, knees, hips, and ankles were noted (Figure 2A and B).
Oral mucosa demonstrated gingival hyperplasia (Figure 2C). There were generalized sclerodermatous changes of the skin,
most prominently in the left lower extremity (Figure 2B ). Skin was significant for pearly, erythematous papules
and indurated plaques located symmetrically on the back (Figure 2C and D). Similar indurated plaques that were more
erythematous than violaceous were also seen on the posterior scalp (Figure 2E).
The perianal area revealed multiple coalescent skin-colored, indurated papules involving the perineum (Figure 2F ).
Due to long-standing malnutrition, the child had multiple electrolyte abnormalities including a nonanion gap acidosis,
hyponatremia, hyperkalemia, and hypoalbuminemia.
Clinical findings of patient and skin biopsy. Notes: Contractures of the wrists and ankles (A and B).
There were generalized sclerodermatous changes of the skin also appreciated in the extremities,
most prominently in the left lower extremity (B). Gingival hyperplasia (C). Skin findings on the back (D),
posterior scalp (E), and perineum perianal area (F).
