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Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
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SOFT Syndrome: The First Case in Iran
Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life.
Neda Mostofizadeh +3 more
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Trisomy 18 Syndrome with Incomplete Cantrell Syndrome
The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum ...
Yi-Jen Hou +6 more
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Nail involvement in patients with epidermolysis bullosa: A systematic review [PDF]
Background Nail changes in patients with congenital epidermolysis bullosa (EB) are caused by abnormalities of the nail matrix and bed secondary to pathogenic alterations of the dermoepidermal junction.
Elena Pastrana‐Arellano +2 more
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Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies
Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics.
Füsun Düzcan +5 more
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Nail Abnormalities in Scabies Patients: A Systematic Review [PDF]
Hendra Gunawan, Risa Miliawati Nurul Hidayah, Pati Aji Achdiat, Retno Hesty Maharani, Fitri Yulianti Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr.
Gunawan H +4 more
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Abnormalities of the hallux skin and nail in the course of very rare arteriovenous malformation [PDF]
Abstract Arteriovenous malformations (AVMs) are usually found in the pelvic area and the brain. These vascular anomalies are rarely reported in the toes. AVMs in the toes may be asymptomatic, but can also cause atypical symptoms. Congenital AVMs can expand as patients age and manifest in adulthood. They may be provoked by injury.
Marta Wasilewska +2 more
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The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis.
Nilton Di Chiacchio +4 more
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Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]
: The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes +1 more
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Usefulness of Optical Coherence Tomography in the Preoperative Assessment of Nail Deformities [PDF]
Secondary nail deformities are often seen at some time after fingertip and nail bed injuries. A proper evaluation of the fingernail enables appropriate diagnosis and treatment, especially in patients who need surgical management.
Han Gyu Cha, Eun Soo Park, Seung Min Nam
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