Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature

Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, and skeletal malformations [1–4]. In this review, two siblings with a combination of clinical, skeletal, ocular, dental and cytogenetic findings are presented in view of SCKL.
Case 1: A 26-year-old woman presented to our dermatology outpatient clinic for pigmentary changes on her body that have existed for ten years. She has not approached any doctor due to her symptoms before. On dermatological examination, multiple milimetric hyper- and hypo-pigmented macules were detected on her body primarily localized on both axillary regions and both sides of her neck. On physical examination, she was noticed to have extremely short stature and low weight. General appearance of the patient was characterized by a small, narrow face and forehead, slightly beaked nose, midfacial hypoplasia, very stunted stature with microcephaly (Figure 1). She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.
Severe growth retardation, abnormal facial features and presence of pigmentary skin lesions led us to investigate the patient for a possibility of a syndrome.
The patient was born to a GP1 21-year-old woman after an uneventful pregnancy. Her parents were non-consanguineous and healthy. She was delivered at full term with normal delivery with birth weight of 1400 g. The family had four female and four male children. An unexamined male sibling has been reported to be underdeveloped and weak, while the other five siblings were defined as healthy.
The patient had developmental difficulties by birth, especially about weight gain.
On general examination, she had an abnormal short stature with a weight of 25 kg and height of 135 cm. Her head circumference was 48 cm.
On laboratory examinations, results of complete blood count and biochemistry panel were normal except low ionized calcium levels (3.87 mg/dl, normal: 4.64–5.28 mg/dl). Parathormone (PTH) levels (69.1 pg/ml, normal: 15–65 pg/ml) were high while the levels of vitamin D was quite low (6.2 ng/ml, normal: 25–80 ng/ml) indicating osteomalacia.
On radiological examination, no pathology was detected on chest radiography. The bone mineral density test showed osteopenia. Osteopenia was detected in all bone radiographic...


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