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Resume Introduction Le syndrome de Griscelli (SG) est une maladie genetique autosomique recessive rare, caracterisee par une dilution pigmentaire des cheveux et de la peau. Nous rapportons un cas de syndrome de Griscelli de type 3 diagnostique a un âge tardif. Observation Une femme de 31 ans presentait depuis l’enfance une depigmentation des cheveux et des sourcils avec une discrete leucodermie diffuse. L’etude microscopique du cheveu mettait en evidence des agregats de melanine irregulierement distribues le long de la tige pilaire. Le sequencage de l’ADN montrait une mutation homozygote C103T (R35W) dans l’exon 1 du gene MLPH, correspondant au syndrome de Griscelli type 3. Discussion Trois phenotypes cliniques de SG ont ete decrits selon le defaut moleculaire sous-jacent. Les SG types 1 et 2 sont associes respectivement a un dysfonctionnement du systeme nerveux central et a un deficit immunitaire. Le SG type 3 est une forme cutanee isolee. L’examen microscopique des cheveux permet de poser le diagnostic. Seuls 15 cas de SG type 3 ont ete decrits dans la litterature, neuf de sexe masculin et six de sexe feminin. L’âge moyen au diagnostic est de 12 ans. Dix des cas sont d’origine arabe, quatre d’origine turque et un d’origine indienne. La mutation R35W a ete observee dans neuf cas et les mutations E98X et R35Q chacune dans un cas. Conclusion Le syndrome de Griscelli doit etre evoque devant tout aspect de cheveux gris argentes, plus particulierement chez des patients d’origine arabe ou turque.

We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis. GS3 belongs to a group of inherited autosomal recessive (AR) disorders of partial albinism, known as silvery hair syndromes, while familial gigantic melanocytosis (FGM) is a putative disorder of dyschromia with silvery hairs. A pertinent literature search revealed hyperpigmentation or dyschromatosis as a rare manifestation of silvery hair syndromes, especially in dark-skin populations. A comparative analysis of previously reported cases depicted close morphological similarities between GS3 and FGM. We discuss the uncertainty pertaining to cases described in literature as FGM, to be truly representative of a distinctive entity, or merely a morphological variation of GS3.

Griscelli syndrome (GS) is a fatal autosomal recessive condition characterized by genetic mutation in the intracellular melanosome transport system leading to congenital partial albinism with neurological and/or immunological involvement. It is classified into three subtypes. We present here a case of a 13-year-old girl along with her two siblings (7-year-old male and 9-year-old female) who presented with complaints of gradual onset of pigmentation of the skin with silvery grey hair, eyebrows, and eyelashes since birth. All three cases were diagnosed as GS Type 3 on the basis of clinical presentation, family history, absence of any systemic abnormality, and characteristic microscopic findings of the hair shaft and skin biopsy. To the best of our knowledge, this is the first-ever report of three non-identical siblings of GS Type 3, which is a rare syndrome. GS type 3 needs no active intervention except for regular follow-up.

Griscelli syndrome (GS) is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000): 164-167]

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. GSis a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types. The three different types of GS are caused by mutations in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, resulting from mutations in the MYO5A gene. Type 2 patients commonly develop hemophagocytic. Lymphohistiocytosis, caused by mutations in the RAB27A gene, and type 3 have only partial albinism resulting from mutations in the MLPH. While hematopoietic stem cell transplantation is lifesaving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, 12 patients with similar presentation of GS-3 as our case have been reported. About 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. We report a 11 years old child with type 3 GS, referred to our clinic for partial albinism, healthy otherwise, having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Though GS type1 and 2 have been reported in the literature; however reports on GS type 3 from Saudi Arabia are very scanty. In communities with high incidence of consanguinity possibility of GS should be kept in mind.

A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation.

PubMedID: 25283056 [No abstract available]

Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Two siblings discussed here had silvery hair, eyebrows and eyelashes since birth with no features suggestive of immunodeficiency or neurological impairment, making it an even rarer presentation of Griscelli Syndrome, type 3. Diagnosis was confirmed on light microscopy (LM) of hair shafts. Both GS1 and GS2 have been described earlier. However, extensive search of the literature failed to reveal a similar presentation from Indian origin. This is the first ever report of GS-3 in non-identical siblings from India.

Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.