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Chu et al. Rare Dis Orphan Drugs J 2023;2:2 https://dx.doi.org/10.20517/rdodj.2022.25 Page 5 of 10

complicating frequent episodes of diarrhea was also documented. At 1 month old, there was an episode of
severe hyponatraemia down to 110 mmol/L, presenting with repeated vomiting and decreased general
condition but no seizures, which was corrected over 3 days. It was concluded to be likely secondary to poor
feeding tolerance and significant gastrointestinal loss, after all, workup investigations returned
unremarkable. There was also one episode of skin exudative infection due to methicillin-sensitive
Staphylococcus aureus (MSSA), which was treated with a standard course of topical mupirocin. The baby
was eventually discharged from hospital at 2.5 months old, with frequent loose stool but no longer
contained mucus or blood. The body weight had dropped to below 3rd percentile, but there was steady fair
weight gain in the period prior to discharge with oral feeding well established.

The baby continued to be followed up in a paediatric dermatological specialist centre. There was one
episode of a blood-filled blister formation over the left thigh at 3 months old, which was aspirated, but
otherwise, the skin condition was largely stable on generous emollients and cautious skin care. Blood
investigations at 3 months old revealed iron deficiency, which had been subsequently normalized with oral
iron and multivitamin supplements. Catch-up growth was satisfactory, and the child’s body weight had
reached 3rd-10th percentile upon the latest follow-up at 11 months old. There were no desquamative lesions
or blisters, and the skin was generally well except for a few patches of mild eczema.

Patient 2
Patient 2 was a 49-year-old woman, who was the eldest of 4 siblings born to consanguineous Chinese
parents who were first-degree cousins [Figure 1]. Her two younger sisters were also reported to have some
skin conditions but were not well characterized and with no definite diagnosis. Her parents and younger
brother were reported to be healthy in general. No further family history of significance was reported.

She was reported to have thin skin with wrinkling, photosensitivity, and easy abrasion or blistering since
birth. Skin biopsy had been performed on her and her younger sisters when they were young, but no
specific diagnosis was reached. She also had right conductive hearing loss during her adolescence, and later
hearing tests also confirmed high tone hearing loss on the left side. She started to have progressive
dysphagia and choking as a teenager. She recalled having difficulties swallowing harder food, e.g., fried and
crunchy food, since the age of 14-15, eventually could no longer tolerate a solid diet since around 30 years
old, and has begun to rely on a blender to convert food into puree. The clinical assessment confirmed that
s h e h a d a n a r r o w o r a l a p e r t u r e a n d s c a r s w e r e o b s e r v e d o v e r h e r o r o p h a r y n x .
Oesophageogastroduodenoscopy (OGD) showed a circumferential stricture at the cricopharyngeus with
scarring, and the endoscope was unable to pass through. A contrast swallow study showed decreased
oesophageal peristalsis with impaired distensibility, suggesting oesophageal dysmotility. Rheumatological
workup only showed elevated anti-nuclear antibody levels, with no specific diagnosis.

Eventually, she had an episode of emergency admission due to obstructive sensation at the cricoid region
following ingestion of a Chinese cake, and after urgent contrast computed tomography of the neck ruled out
any abscess, OGD was performed, and dilatation was done at the known stricture site at the
cricopharyngeus. Biopsy only showed squamous mucosa with mild keratinization. Subsequently, she
received regular follow-up and interval OGD with dilatation at the cricopharyngeal stricture.

At 45 years old, she developed further symptoms with oral ulcers, hair loss, and progressive weight loss of 5
kg over several months. Upon referral to a joint rheumatology-dermatology specialist clinic, she was noted
to have generalized skin xerosis, atrophic changes over digits and extensor surfaces, dystrophic nails, loss of
skin fissure over palmar region, and fragile skin with easy erosions over trauma-prone regions, in addition