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

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.

Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak–Higashi Syndrome

Chédiak–Higashi syndrome (CHS), a rare autosomal recessive disorder associated with leukocyte dysfunction, is characterised by partial skin and hair albinism, immunodeficiency, and abnormal bleeding. Furthermore, it may be associated with cognitive and neurological impairments. The long-term prognosis of patients is generally poor, and haematopoietic stem cell transplantation is a radical immunodeficiency treatment. Here, we report a case of successful oral management of an 18-year-old woman with CHS accompanied by aggressive periodontitis who underwent haematopoietic stem cell transplantation.

Deficiency in Lyst function leads to accumulation of secreted proteases and predisposition to mechanic stress-induced retinal detachment

Chediak–Higashi syndrome , caused by mutations in the Lys osome T rafficking Regulator ( Lyst ) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration , and defective immune response s , with e nlargement of lysosomes and lysosome-related organelles. Although recent studies have suggested that Lyst mutations impair the regulation of sizes of lysosome and lysosome-related organelle , the underlying pathogenic mechanism of Chediak–Higashi syndrome is still unclear. Here we show striking evidence that deficiency in LYST protein function leads to accumulation of photoreceptor outer segment phagosomes in retinal pigment epitheli al cells , and reduce s adhesion between photoreceptor outer segment and retinal pigment epithelial cells in a mouse model of Chediak–Higashi syndrome . In addition, we observe elevated levels of cathepsin s , matrix metallopeptidase ( MMP ) 3 and oxidative stress markers in the retinal pigment epitheli um of Lyst mutant s . Previous reports showed that impaired degradation of photoreceptor outer segment phagosomes causes elevated oxidative stress , which could consequently lead to increase s of cysteine cathepsins and MMPs in the extracellular matrix. T aken together , we conclude that the loss of LYST function causes accumulation of phagosomes in the retinal pigment epitheli um and elevation of several extracellular matrix -remodeling proteases through oxidative stress , which may, in turn, reduce retina l adhesion. Our work reveals previously unreported pathogenic events in the retinal pigment epitheli um caused by Lyst deficiency , which may place Chediak–Higashi syndrome patients at increased risk for retinal detachment . The same pathogenic events may be conserved in other professional phagocytic cells, such as macrophages in the immune system, contributing to overall Chediak–Higashi syndrome pathology.

La sindrome di Chediak-Higashi a esordio tardivo

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the CHS1/LYST gene, encoding for LYST protein, involved in lysosomal trafficking. It is characterized by recurrent bacterial infections, oculocutaneous albinism, silver hair, haematological and neurological alterations and a possible evolution towards the socalled accelerated phase (haemophagocytic lymphohistiocytosis). It is classified in a classic form, with infantile onset, lethal if bone marrow transplantation is not promptly performed, and in an atypical form, with adolescent/adult onset, for which a more conservative approach may be possible. The paper describes a case of hypertrophic-hyperplastic gingivopathy associated with leuko-neutropenia. The evaluation of the bone marrow smear raised the suspicion of CHS and the analysis of the clinical history highlighted the presence of suggestive criteria for atypical CHS. The genetic investigation confirmed the diagnosis.