Li Yun-Ling, Han Ting, Hong Fang
Department of Dermatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China.
Department of Children's Health Care, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China.
World J Clin Cases. 2020 Feb 6;8(3):587-593. doi: 10.12998/wjcc.v8.i3.587.
Pseudohypoparathyroidism 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 mutation.
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 gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D, calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient's parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.
These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.
I型假性甲状旁腺功能减退症（PHP Ia）是一种罕见的遗传性综合征，早期PHP Ia患者一般不会因以皮肤结节为主要临床特征而被诊断出来。在此，我们描述一名患有PHP Ia的中国男孩，其主要临床特征为皮肤结节，且该患者表现出一种新的突变。
一名5岁男孩有全身散在皮肤结节5年病史。该患者身材矮小、圆脸、短颈且鼻梁稍扁平；全身还散在有多个硬丘疹和皮肤结节。患者甲状旁腺激素水平显著升高。其血清钙水平降低，血清磷水平升高，血清促甲状腺激素水平升高。皮肤活检显示皮下组织有皮肤骨瘤。桑格测序显示该基因第5外显子存在移码突变c.399delT（p.Ser133Argfs*2）。该患者被诊断为PHP Ia和亚临床甲状腺功能减退症。给予其1,25 - 二羟维生素D、碳酸钙和合成左甲状腺素。治疗3个月后，患者甲状旁腺激素水平下降，血清钙和血清磷水平恢复正常。此外，其促甲状腺激素水平也下降。
这些发现有助于皮肤科医生对以皮肤结节为主要早期临床特征的患者诊断PHP Ia。
