ArticleWorld journal of clinical cases2020
Cutaneous nodules and a novel
Article in World journal of clinical cases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature.Annals of dermatology · 2023Article
- Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant.Children (Basel, Switzerland) · 2022Article
- Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures.Behavioural neurology · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel CASE SUMMARY: A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose; he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399delT (p.Ser133Argfs*2) in exon 5 of the
conclusionThese findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.
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