Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome

Abstract

Background/ObjectivesSilvery hair syndrome is a rare, autosomal‐recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak‐Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak‐Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft.MethodsSixteen patients with silvery hair syndrome were selected (Chediak‐Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses.ResultsChediak‐Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome.ConclusionSkin biopsy is a useful tool in differentiating Chediak‐Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak‐Higashi syndrome to be differentiated from Griscelli syndrome, at any age.

Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2

“…Editor Mycoplasma pneumoniae induces various skin conditions, potentially characterized by the development of extensive mucosal/eye lesions consistent with Stevens-Johnson syndrome (SJS). 1 Particularly, in cases of paediatric SJS, M. pneumoniae infections are a major aetiology. 1 Mycoplasma pneumoniae-associated SJS often manifests as only mucosal lesions without skin lesions, whereas typical drug-induced SJS manifests as both skin and mucosal lesions.…”

“…1 Particularly, in cases of paediatric SJS, M. pneumoniae infections are a major aetiology. 1 Mycoplasma pneumoniae-associated SJS often manifests as only mucosal lesions without skin lesions, whereas typical drug-induced SJS manifests as both skin and mucosal lesions. 1 Herein, we present two cases of M. pneumoniae-associated SJS with only mucosal lesions.…”

“…1 Mycoplasma pneumoniae-associated SJS often manifests as only mucosal lesions without skin lesions, whereas typical drug-induced SJS manifests as both skin and mucosal lesions. 1 Herein, we present two cases of M. pneumoniae-associated SJS with only mucosal lesions. We histologically compared the M. pneumoniae-associated and drug-induced SJS.…”

“…3 A. Olaya-Vargas, 4 N. Ram ırez-Uribe, 4 F. Rivas-Larrauri, 1 C. Dur an-McKinster, 5 M.A. Alc antara-Ortigoza, 6 A. Gonz alez-del Angel, 6 L. Orozco-Covarrubias, 5 S. Scheffler-Mendoza, 1 M. Saez-de-Ocariz 5 *…”

“…Editor Griscelli syndrome type 2 (GS2) features silvery-grey hair, bronzed skin and immunodeficiency. 1 The only curative treatment for GS2 is haematopoietic stem cell transplantation (HSCT) which corrects the immune and haematologic defects with persistence of oculocutaneous abnormalities. Figure 1 (a) Silvery-grey hair mainly noted in the eyebrows and eyelashes pre-HSCT; (b) hair-shaft light microscopy pre-HSCT with large and small unevenly distributed pigment granules, characteristic of GS; (c) hair-shaft polarized microscopy pre-HSCT showing a bright shaft with monotonous whitish appearance enhancing the irregularly distributed pigmented clumps; (d) mixed silvery hair and dark pigmented hair in the scalp and eyebrows post-HSCT; (e) mostly dark pigmented hair in the scalp post-HSCT; (f) hair-shaft light microscopy post-HSCT with well-defined medulla, almost complete pigmentation of the hair shaft and persistence of some large pigment granules; (g) hair-shaft polarized microscopy post-HSCT with lesser brilliance due to a denser fine pigmentation throughout the cortex and medulla alternating with enlarged melanin granules; (h) hair colour post-HSCT with grey and dark coloured scalp hair under trichoscopy; (i) confocal reflectance microscopy post-HSCT showing highly reflective clusters (pigment clumps) irregularly distributed in the medulla and cortex alternating with normally pigmented hair shafts.…”