Elejalde syndrome: report of a case and review of the literature.
TL;DR: A 6‐year‐old girl with Elejalde syndrome is reported and the differential diagnosis includes Griscelli and Chediak‐Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction.
Abstract: Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6- year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes.
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TL;DR: A 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures is reported.
Abstract: Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation.
4 citations
Cites background from "Elejalde syndrome: report of a case..."
...Seizures, severe hypotonia, and mental retardation are the usual clinical findings [2]....
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...Ophthalmologic abnormalities include nystagmus, diplopia, amaurosis, and absence of pupillary reflex [2]....
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08 Sep 2015
TL;DR: Elejalde Syndrome is characterized by silvery hair, pigment and neurological abnormalities like seizures, hypotonia and intellectual impairment and the immunological function is usually preserved in this syndrome.
Abstract: Elejalde Syndrome (ES) is also known as neuro-ectodermal melanolysosomal disease [1]. It forms a spectrum of the silvery hair syndromes. This disorder is characterized by silvery hair, pigment and neurological abnormalities like seizures, hypotonia and intellectual impairment. The immunological function is usually preserved in this syndrome. These patients have hypopigmentation due to impaired melanosome transport [2].
3 citations
Cites background from "Elejalde syndrome: report of a case..."
...The most common presentation of ES is neurological manifestation in the form of seizures, hypotonia, hemiplegia, quadriplegia, ataxia, and ocular abnormalities [5]....
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TL;DR: Pigmentation in human skin differs individually and is regulated by more than 100 genes as mentioned in this paper, and the discovery of an increasing number of these genes has shed light on the molecular basis and pathogenesis of genetic pigmentary disorders.
Abstract: Pigmentation in human skin differs individually and is regulated by more than 100 genes. The discovery of an increasing number of these genes has shed light on the molecular basis and pathogenesis of genetic pigmentary disorders. They are very rare and can be caused by changes in melanocyte number or melanin synthesis as well as development, transport and transfer of melanosomes. Pigmentary disorders can be divided into hyper- and hypopigmentation, of which the distribution can be diffuse or localized. Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome. Hyperpigmentation can be divided into diffuse, reticular or localized forms. They must be distinguished from endocrinopathies which may show hyperpigmentation, and from poikilodermatous syndromes displaying internal involvement.
2 citations
TL;DR: Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features as discussed by the authors, where the genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis.
Abstract: Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis.
We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The patient had an MYO5A mutation and, remarkably, a deletion on 18p11.32p11.31. The deletion was previously reported in a patient with refractory seizures and developmental delay. We reviewed all cases of GS that presented with seizures. We reviewed other cases of GS and seizures described in the literature and explored possible seizure mechanisms in GS. Seizure in GS1 seems to be related directly to the MYO5A mutation.
The neurological manifestations in GS2 seem to be caused indirectly by the accelerated phase of Hemophagocytic syndrome (HPS), which is characteristic of GS2. By having the MYO5A gene mutation combined with the 18p11.32p11.31 deletion, the prognosis and severity of the patient's condition are poor. This is the first report of GS1 with a deletion in 18p11.32p11.31.
2 citations
TL;DR: An 8-month-old male child referred to the authors' hospital with complaints of fever, respiratory distress, and abdominal distension since last 2 months was diagnosed with Chediak-Higashi syndrome in accelerated phase.
Abstract: Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, mild coagulation defect, varying neurological p...
2 citations
Cites background from "Elejalde syndrome: report of a case..."
...Differential diagnosis includes Griscelli syndrome, Hermansky Pudlak syndrome, and Elejalde syndromes, lymphoma/leukemia, and Haemophagocytic Syndrome [4, 5]....
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References
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01 Jan 1971
TL;DR: Introduction biology and pathophysiology of skin disorders presenting in the skin and mucous membranes dermatology and internal medicine diseases due to microbial agents therapeutics paediatric and geriatric dermatology.
Abstract: Introduction biology and pathophysiology of skin disorders presenting in the skin and mucous membranes dermatology and internal medicine diseases due to microbial agents therapeutics paediatric and geriatric dermatology.
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TL;DR: Diagnosis of skin disease neonate naevi and other developmental defects pruritus eczema lichenification, prurigo and erythroderma atopic dermatitis contact dermatitis irritants and sensitizers occupational dermatoses reactions to mechanical and thermal injury reactions to cold cutaneous photobiology.
Abstract: This latest edition continues its place as a would-be comprehensive encyclopaedia of the scope of dermatology with a vast array of disease states presented to the reader. For this new edition many chapters have been entirely rewritten to take account of the considerable advances in dermatology, and new contributors with specialized experience of the subject on which they write have joined the team.
1,738 citations
01 Jan 1987
TL;DR: In this paper, a case of paraganglioma of the filum terminale was presented where normal sympathetic ganglion cells were seen in conjunction with tumour cells in a well-encapsulated tumour.
Abstract: Summary. A case of paraganglioma of the filum terminale is presented where normal sympathetic ganglion cells were seen in conjunction with tumour cells in a well-encapsulated tumour, suggesting a possible origin from heterotopic sympathetic ganglion.
1,590 citations
01 Jan 2016
TL;DR: Granular cell tumor must be added to the differential diagnosis of epibulbar masses and Immunohistochemistry of the tumor in this case suggests an uncom mitted mesenchymal cell origin.
Abstract: (2) peculiar "taming" effect on monkeys in that aggression disappears, and (3) thalamic stimulation.2 Although the drug has been in clinical use since 1954, reports of toxicity have been scattered, and only one review of adverse responses has appeared.3 One death has been reported.4 The purpose of this communication is to present a case of meprobamate idiosyncrasy with skin bi¬ opsy and skin testing, to review the pub¬ lished reports to date, and to discuss possible etiologic factors in the pathogene¬ sis of the anaphylactoid reaction. The records of more than 6500 patients have been summarized to date.8"81 Twentythree cases of attempted suicide,6"19 and one hundred thirteen cases of idiosyncrasy have
1,565 citations
TL;DR: It is concluded that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chédiak-Higashi syndrome by pathognomonic histologic features.
207 citations