• Title/Summary/Keyword: Netherton's syndrome

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A Case of Netherton's Syndrome in a Newborn (신생아기에 진단된 Netherton 증후군 1례)

  • Lee, Eun-Hee;Kim, Ellen Ai-Rhan;Kim, Ki-Soo;Cho, Beom-Jin;Koh, Jai-Kyoung;Pi, Soo-Young
    • Clinical and Experimental Pediatrics
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    • v.46 no.4
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    • pp.389-392
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    • 2003
  • Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in many cases. We report a case of Netherton's syndrome diagnosed in the neonatal period. The patient presented with severe ichthyosis and confirmed microscopically distinctive bamboo hair.

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children

  • Dharmagat Bhattarai;Aaqib Zafar Banday;Rohit Sadanand;Kanika Arora;Gurjit Kaur;Satish Sharma;Amit Rawat
    • Applied Microscopy
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    • v.51
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    • pp.18.1-18.12
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    • 2021
  • Hair, having distinct stages of growth, is a dynamic component of the integumentary system. Nonetheless, derangement in its structure and growth pattern often provides vital clues for the diagnosis of systemic diseases. Assessment of the hair structure by various microscopy techniques is, hence, a valuable tool for the diagnosis of several systemic and cutaneous disorders. Systemic illnesses like Comel-Netherton syndrome, Griscelli syndrome, Chediak Higashi syndrome, and Menkes disease display pathognomonic findings on hair microscopy which, consequently, provide crucial evidence for disease diagnosis. With minimal training, light microscopy of the hair can easily be performed even by clinicians and other health care providers which can, thus, serve as a useful tool for disease diagnosis at the patient's bedside. This is especially true for resource-constrained settings where access and availability of advanced investigations (like molecular diagnostics) is a major constraint. Despite its immense clinical utility and non-invasive nature, hair microscopy seems to be an underutilized diagnostic modality. Lack of awareness regarding the important findings on hair microscopy may be one of the crucial reasons for its underutilization. Herein, we, therefore, present a comprehensive overview of the available methods for hair microscopy and the pertinent findings that can be observed in various diseases.