Systemic involvement may include hepatosplenomegaly, doublesided cataracts, growth retardation, myopathy, ataxia and bilateral. Dermatosis definition of dermatosis by medical dictionary. Netherton syndrome ns is a rare autosomalrecessive ichthyosiform disease. Hepatic parenchymal dysfunction has been associated with superficial necrolytic dermatitis hepatocutaneous syndrome, diabetic dermatosis in old dogs and rarely in cats. The dorfmanchanarin syndrome is a congenital ichthyosiform erythroderma of recessive autosomal character. Dorfman ml, hershko c, eisenberg s, sagher f, jerusalem 1974 ichthyosiform dermatosis with systemic lipidosis.
Ichthyosis canine ichthyosiform dermatosis is a group of skin disorders characterized by dryness, roughness, and scaliness. This syndrome should be differentiated from psoriatic erythroderma, dariers erythema annulare centrifugum, subcorneal pustular dermatosis, wiskottaldrich syndrome, non. Short reports 957 table 1 average number, total perimeter and total area of. Lack of the cterminal domain of adipose triglyceride. Defective lamellar body contents and intracellular dispersion. Eisenberg s, sagher f 1974 ichthyosiform dermatosis with systemic lipidosis. Clinical atlas of canine and feline dermatology wiley. Frost, autoradiographic analysis of cell proliferation kinetics in human genital tissues am. Ichthyosiform dermatosis is a skin disease which has similarities in appearance to ichthyosis, the umbrella term for a group of conditions seen in humans and occasionally reported in dogs. Congenital ichthyosiform erythroderma nonbullous congenital ichthyosiform erythroderma. The molecular mechanisms by which triglycerides in lipid droplets lds are synthesized, stored, and degraded need to be elucidated.
Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The objectives were to report siblings with neutral lipid storage disease with myopathy nlsdm with a novel mutation of adipose triglyceride lipase atgl and determine whether the cterminal part of atgl containing the. Dorfman ml, hershko c, eisenberg s, sagher f 1974 ichthyosiform dermatosis with systemic lipidosis. Clinical and genetic characterization of chanarindorfman. Dc syndrome is a rare autosomal recessive neutral lipid storage disorder characterized by congenital ichthyosis and deposition of lipid droplets in multiple systems such as skin, muscles, liver. In carnitine systemic primary deficiency syndrome, an octn2 pathogenetic mutation was identified in the patient described by chapoy and colleagues, 7 as well as in other cases. Easytouse charts of dermatologic diseases provide differential diagnoses and treatments, helping practitioners to quickly. Herein we describe ichthyosiform dermatosis associated with type 2 diabetes mellitus.
We now demonstrate that efficient atgl enzyme activity requires activation by cgi58. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system cns. Two patients had an unusual ichthyosiform dermatosis, neurosensory deafness, and vascularizing keratitis. Chanarin i, patel a, slavin g, wills ej, andrews tm, stewart g. Dermatitis is sometimes seen in association with disorders of internal organs, such as the liver, kidneys, or pancreas. A rare cause of nonalcoholic fatty liver disease annals.
Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Chanarindorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable. Mutations in cgi58, the gene encoding a new protein of the. Distinct roles of alphabeta hydrolase domain containing proteins. Lipid droplets were found in five of these six families. Ichthyosiform dermatosis with systemic lipidosis jama. Background in addition to the welldefined hereditary primary ichthyoses, many sporadic or less welldefined keratinization disorders with or without systemic manifestations have been reported.
As i discussed in a previous blog, the us and the uk have a soft spot in their heart for the cavalier king charles spaniel ckcs. Dorfmanchanarin syndrome neutral lipid storage disease. Chanarindorfman syndrome cds is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma ncie and an intracellular accumulation of triacylglycerol tg droplets in most tissues. Dorfman chanarin syndrome neutral lipid storage disease. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Another term for a dermatosis is a cutaneous condition.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects child syndrome is an xlinked dominant disorder affecting females with early lethality in hemizygous males. There was no family history of the disorder and no consanguinity. Frost, skin and cancer unit, mount sinai medical center of greater miami, miami beach, florida skin and cancer unit, mount sinai medical center of greater miami miami beach florida references averette et al. Pdf neutral lipid storage disease with ichthyosis, chanarin. Ichthyosiform dermatosis with systemic lipidosis jama network. Pdf neutral lipid storage disease with ichthyosis, also called. A child presented with generalized ichthyosis, delayed motor and mental milestones, abdominal. Infants with cie have skin that remains red, usually with a fine, white scale, and there is a spectrum of involvement with ectropion, eclabium, and alopecia. Distinct roles of alphabeta hydrolase domain containing. Observations the patients were members of a large arab family with heavy consanguinity. Cancer cells shift their metabolism to aerobic glycolysis i. Angelini c, philippart m, borrone c, bresolin n, cantini m, lucke s.
Chanarindorfman syndrome with absent jordans anomaly. In dogs, this hereditary condition affects the eyes and skin. Patients with netherton syndrome have been found to have a mutation on chromosome 5q32 in a gene named spink5 serine protease inhibitor, kazal. Lipid profile was deranged with elevated triglycerides 123 mgdl, decreased hdl 31 mgdl, cholesterol 214 mgdl, ldl and vldl levels of 104 and 25 mgdl, respectively. Improved cytochemical method for detecting jordans bodies. The popularity of the breed has exploded over the past 15 years and is continuing to climb the akc registration statistics. In conclusion, we have described a kindred with migratory ichthyosiform dermatosis in association with type 2 diabetes mellitus and insulin resistance, to the best of our knowledge not previously described. Netherton syndrome is an autosomal recessive condition that consists of an ichthyosiform dermatosis with variable erythroderma, hair shaft defects, and atopic features. Congenital ichthyosiform erythroderma cie, also known as nonbullous congenital ichthyosiform erythroderma. The liver functions were deranged with elevated enzymes sgpt 146 ul, sgot 149ul, alp 859ul.
Ichthyosiform sarcoidosis and systemic involvement. Chanarindorfman syndrome cds is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Four patients with an ichthyosi form dermatosis resembling nonbul lous ichthyosiform erythroderma had lipid. Studies are currently in progress on the molecular genetics of this syndrome and its association with type 2 diabetes mellitus. Ichthyosis and neutral lipid storage disease, american. It can be found in patients with xlinked dominant ichthyosis, too 5. Dermatosis is a condition that affects the skin, nails, or hair. Two sisters and two unrelated patients with an ichthyosiform dermatosis resembling nonbullous ichthyosiform erythroderma were found to have lipid.
Since the initial case was reported by dorfman in 1974, nearly 50 cases have been reported, and the majority were from middle east countries. Congenital ichthyosis, dorfmanchanarin syndrome, jordans. Lass a, zimmermann r, haemmerle g, riederer m, schoiswohl g, et al. Muscular dystrophy with large mitochondria associated with. Cie usually presents as a collodion newborn, similar to li. Adipose triglyceride lipase atgl was recently identified as an important triacylglycerol tg hydrolase promoting the catabolism of stored fat in adipose and nonadipose tissues. Penabad cp, almagro m, martinez w, silva jg, pozo jd, yebra mt et al. A squamous cell carcinoma of the tongue developed in one child. In 1998 four children presenting with a severe form of autosomal recessive congenital muscular dystrophy with unusual muscle biopsy features, showing large mitochondria with crystalline inclusions, were described. Dykes pj, marks r, davies mg, reynolds dj 1978 epidermal metabolism in heredopathia atactica polyneuritiformis refsums disease. Linear iga bullous dermatosis labd, also known as linear iga disease, is a rare, idiopathic or druginduced autoimmune blistering disease characterized by the linear deposition of iga at the dermoepidermal junction. Migratory ichthyosiform dermatosis with type 2 diabetes. The main clinicopathological characteristics are discussed.
Onset is delayed until at least three months of age. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndromes. Dermatoses is a general term used to describe any skin defect or lesion on the skin. Dorfmanchanarin syndrome dcs, is a rare and autosomal recessive disorder. Mutations in the human cgi58 gene are associated with chanarindorfman syndrome cds, a rare genetic disease where tg. Another form of neutral lipid storage disease without ichthyosis but with myopathy nlsdm. We previously localized a gene for a subset of ncie to chromosome 3 designated the ncie2 locus, in six families. Chanarindorfman syndrome cds is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma ncie that is characterized by the presence of intracellular lipid droplets in most tissues. Neutral lipid storage disease with fatty liver and cholestas. Systemic involvement may include hepatosplenomegaly, doublesided cataracts, growth retardation, myopathy, ataxia and bilateral sensorineural hearing loss.
Chanarindorfman syndrome cds is a multisystem, autosomal recessive genetic disorder characterized by congenital nonbullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva erb. Acute lesions are relatively common and exhibit a wide range of clinical conditions. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane.
Mutations in the gene encoding choline kinase beta chkb in these and 11 other children were identified by the same group in 2011. Ichthyosiform sarcoidosis is a rare variant of cutaneous sarcoidosis that is frequently associated with further internal involvement. A new patient of chanarin dorfman syndrome in egypt. A rare cause of fatty liver and elevated aminotransferase. Dermatosis is defined as a disorder involving lesions or eruptions of the skin that are acute lasting days to weeks or chronic lasting months to years. Colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects chime syndrome comprise a rare neuroectodermal disorder. Nonbullous congenital ichthyosiform erythroderma genetics. Systemic means it affects the whole body, rather than just one part. Amegakaryocytic thrombocytopenia is a hematological disorder characterized by severe thrombocytopenia, probably due to an immunologically induced absence of megakaryocytes in an otherwise normal appearing bone marrow. Neutral lipid storage disease coexisting with ichthyosiform.
Individuals affected with these conditions have skin that is very scaly and which can resemble fish skin scott et al 2001. Spectrum of ichthyoses in an austrian ichthyosis cohort from. The clinical presentation and severity of arci ranges from harlequin ichthyosis hi to lamellar ichthyosis li, congenital ichthyosiform erythroderma cie, and pleomorphic ichthyosis pi, the latter defined as spontaneous age. Lipolysis degrades triacylglycerols to supply cells with free fatty acids, which are essential components of membrane lipids and substrates for energy production. Ichthyosis it is a term referring to at least 28 different genetic skin disorders, where the skin predominantly appears dry, thickened, scaly and cracked. Usually, these conditions are triggered by local or systemic immunologic. The disease produces lipid vacuoles within leucocytes, and variable involvement of other organs or systems, including the central nervous system, liver, muscle, hearing and eyes. Aug 30, 2017 lipolysis degrades triacylglycerols to supply cells with free fatty acids, which are essential components of membrane lipids and substrates for energy production.
Ichthyosiform dermatoses foundation for ichthyosis. Myelodysplastic syndrome presenting as amegakaryocytic. Clinical atlas of canine and feline dermatology presents more than a thousand highquality color photographs depicting common dermatologic diseases and conditions, making it easy for clinicians to quickly evaluate and accurately identify clinical dermatologic lesions. Results of the first ichthyosis consensus conference in soreze. Congenital ichthyosis and hyperlipidemia springerlink. Diagnosis and treatment of acute inflammatory dermatoses. Nonbullous congenital ichthyosiform erythroderma nbcie is a condition that mainly affects the skin. However, in our case we are presenting another rare association with a baby having a skin. Two sisters and two unrelated patients with an ichthyosiform dermatosis resembling nonbullous ichthyosiform erythroderma were found to have lipid accumulations in the granulocytes of the peripheral blood, in the granulocyte precursors in the bone marrow, and in the liver. Netherton syndrome is a rare disorder inherited in an autosomal recessive pattern consisting of ichthyosiform dermatosis, hair shaft abnormalities trichorrhexis invaginata, and an atopic diathesis. Dorfmanchanarin syndrome gandhi v, aggarwal p, dhawan j.
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