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PubMed2004

[Comparative study of binding power of polymyxin B and its simulating peptide to lipopolysaccharides lipoid A].

OBJECTIVE: To observe the binding power of polymyxin B (PMB) and its simulation peptide to lipopolysaccharide (LPS) and lipoid A. METHODS: LPS and lipoid A were separately coated on biosensor. 5 microl of PMB (0.01 microg/L) 5 microl of its simulating peptide 1 (PMBSP1 0.01 microg/L) and 5 microl of its simulating peptide 2 (PMBSP2, 0.01 microg/L) were respectively added into the hydrophobic sample pool. The combining power of PMB and its simulating peptides PMBSP1 and PMBSP2 to LPS and lipoid A was compared. RESULTS (1) PMBSP1 almost did not bind LPS and lipoid A, while PMB and PMBSP2 possessed high affinity with LPS and lipoid A. (2) The peak value (98.41 +/- 7.31) rad/s of PMBSP2 binding LPS was much higher than that (83.58 +/- 5.42) rad/s of PMB in binding LPS (P < 0.05). While the peak value of PMB in binding lipoid A was similar to that of PMBSP2. (3) The peak value of PMB binding LPS was significantly lower than that of PMB in binding lipoid A (P < 0.05). But there was no difference between the peak value of PMBSP2 in binding LPS and that of PMBSP2 in binding lipoid A. (4) PMBSP2 could bind to LPS and lipoid A in a shorter time to reach peak levels. CONCLUSION: Compared with PMB, the PMBSP2 could bind to LPS and lipoid A in a shorter time. In addition, PMBSP2 exhibited similar affinity to LPS and lipoid A. This indicated that PMBSP might possess better anti-LPS activity due to its lack of space steric hindrance when PMBSP binding the lipoid A of LPS.

Cell Wall↗
PubMed2003

Radiological and clinical findings in acute and chronic exogenous lipoid pneumonia.

PURPOSE: To describe the radiologic and clinical findings in a group of patients with exogenous lipoid pneumonia focusing on features that differentiate the acute and chronic presentations. MATERIALS AND METHODS: We retrospectively identified 15 patients from a single institution with exogenous lipoid pneumonia 1992-2001. Inclusion criteria were: imaging with chest CT and either CT features diagnostic of lipoid pneumonia or intrapulmonary lipids on pathologic examination. Each chart was reviewed for the clinical presentation, history of ingestion/exposure, predisposing factors, treatment and response to therapy. Initial (n = 13) and follow-up (n = 11) chest radiographs were reviewed for the patterns and distribution of lung parenchymal abnormalities and pleural effusion. Initial (n = 15) and follow-up (n = 7) CT scans were reviewed for lung parenchymal abnormalities (consolidation, ground glass opacities, linear/nodular opacities, masses, and crazy paving), presence or absence of fat attenuation, and pleural effusion. The groups were compared using the Fischer exact test. RESULTS: Nine patients had acute lipoid pneumonia, 7 males and 2 females with a mean age of 45 (range 4.5-81) years. Six patients had chronic lipoid pneumonia, 4 men and 2 women with a mean age of 63 (range 37-83) years. 78% (7/9) of patients with acute and all of the patients with chronic presentations had a known ingestion and/or a predisposing condition associated with lipoid pneumonia. On chest radiographs, consolidation and lower lobe involvement were present in the majority of patients with acute and none of the patients with chronic presentations. On CT, consolidation and fat attenuation were present in the majority of patients with each presentation. However, masses were present in 67% (4/6) of patients with chronic and none of the patients with acute presentation (P < 0.05). 86% (6/7) of patients with acute presentation had improvement on follow-up chest radiograph in contrast to none of the patients with chronic presentation (P < 0.05). 75% (3/4) of patients with acute lipoid pneumonia had improvement on follow-up CT in contrast with 67% (2/3) of patients with chronic lipoid pneumonia who had progression on follow-up CT. CONCLUSIONS: The imaging features of acute and chronic lipoid pneumonia overlap with consolidation and lower lobe involvement present in both groups. However, only the patients with acute lipoid pneumonia had pleural effusions and improvement on follow-up. Only the patients with chronic lipoid pneumonia had pulmonary masses.

Acute Disease↗
PubMed2003

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutation database. We identified seven new homozygous nonsense or frameshift mutations: R53X (exon 3); 243delG (exon 4); 507delT (exon 6); 735delTG (exon 7); 785delA (exon 7); 892delC (exon 7) and 1190insC (exon 8), as well as two new compound heterozygous mutations: W160X/F167I (exon 6) and 542insAA/R243X (exons 6/7), none of which were found in controls. The mutation 507delT occurred in two unrelated subjects on different ECM1 haplotypes and may therefore represent a recurrent mutation in lipoid proteinosis. Taken with the previously documented mutations in ECM1, this study supports the view that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis. Clinically, it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features do not show any specific genotype-phenotype correlation.

Adolescent↗
PubMed1989

Formation of lipoidal steroids in follicular fluid.

The presence of high levels of lipoidal pregnenolone in follicular fluid has recently been established although no evidence has been presented concerning its possible origin. The following investigation focuses on the enzymatic conversion of non-conjugated steroids into their lipoidal derivatives in preovulatory follicular fluid obtained from women undergoing in vitro fertilization. Our observations indicated that pregnenolone, an important precursor steroid, was acylated at a similar rate as cholesterol in follicular fluid. Similar studies were subsequently conducted with serum obtained from a pool of normal women and women undergoing follicular stimulation which showed little difference to the results obtained in follicular fluid. Further studies using dehydroepiandrosterone, androst-5-ene-3 beta,17 beta-diol, estradiol and dihydrotestosterone were were also performed to monitor their respective lipoidal conversion percentages in follicular fluid which revealed a marked difference of conversion rates between steroids. The indirect identification of the lipoidal pregnenolone derivatives formed in follicular fluid was also conducted by incubating radiolabelled pregnenolone in follicular fluid. The fatty acid components of the resulting lipoidal pregnenolone derivatives showed a marked resemblance to those of cholesteryl esters formed in plasma by the enzymatic activity of lecithin:cholesterol acyltransferase. The pregnenolone derivatives were comprised predominantly of unsaturated fatty acids such as linoleate, palmitoleate, oleate, linolenate and arachidonate while saturated fatty acids, namely palmitate, constituted 20% of the total lipoidal pregnenolone.

Chromatography, High Pressure Liquid↗
PubMed1981

Lipoidal derivative of estradiol: the biosynthesis of a nonpolar estrogen metabolite.

The incubation of estradiol with human breast tumors as well as several estrogen-responsive tissues of the rat, including dimethylbenzanthracene-induced mammary tumors, leads to the formation of a nonpolar metabolite. This compound has been called a lipoidal derivative of estradiol because of its nonpolar characteristics and because it is converted back into estradiol with alkali. The properties of this metabolite are similar to those of the endogenous lipoidal derivatives of the delta 5-3 beta-hydroxysteroids, pregnenolone, 17-hydroxypregnenolone, and dehydroisoandrosterone, that were found in the adrenal. When estrone was incubated in a similar manner, a nonpolar metabolite was formed, but it was the lipoidal derivative of estradiol, not estrone. The lipoidal derivative of estradiol was not oxidized by treatment with CrO3, which showed that the lipoidal moiety is linked to the C-17 of the steroid nucleus. Unlike other estrogen metabolites, the lipoidal derivative of estradiol is found only within the tissue and cannot be detected in the incubation medium.

Animals↗
PubMed2004

Effect of a lipoidic excipient on the absorption profile of compound UK 81252 in dogs after oral administration.

PURPOSE: Effect of caprylocaproyl macrogolglycerides (Labrasol), as a lipoidic excipient/vehicle in an oral capsule formulation, on pharmacokinetic disposition of a BCS Class 3 compound, UK-81252, was investigated in vivo in a canine model. METHODS: The control and lipoidic formulations were administrated to six Beagle dogs in a crossover, single dose design with a 2-week washout period in between treatments. The plasma concentration-time profile for the lipoidic formulation was compared to that of the control formulation (lactose-based oral capsule). RESULTS: Although the lipoidic formulation resulted in a markedly increased oral bioavailability (based on mean pharmacokinetic parameters, AUC(0-48 hr) and C(max) ), a double-peaking phenomenon was observed with this formulation. The most likely cause of this double-peak effect was the gastric emptying retardation attribute of the lipoidic vehicle/excipient. The initial peak (Tmax1) was due to the absorption enhancing properties of the lipoidic formulation and the second peak (Tmax2) was most likely the result of a shutdown in gastric emptying for a period of up to 2 hours (this value varied between dogs) after which the remaining Compound UK 81252 emptied from the stomach to generate the second peak. CONCLUSIONS: Caprylocaproyl macrogolglycerides enhanced the absorption of Compound UK 81252. After oral administration, the liquid-filled formulation consistently produced a double-peak phenomenon in the plasma profile. Labrasol was determined to be the most likely culprit for this double peaking phenomenon.

Absorption↗
PubMed2005

Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.

BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disorder characterized by deposition of hyaline-like material in several organs, including skin. Pathogenic mutations have been found in the extracellular matrix protein 1 gene (ECM1). Recent studies have disclosed that ECM1 is also a target antigen for autoantibodies in patients with the acquired disease, lichen sclerosus. Both conditions have been reported to show abnormalities in dermal blood vessels but these changes have not been fully assessed. OBJECTIVE: The purpose of this study was to investigate the architecture of the cutaneous microvasculature in lipoid proteinosis and lichen sclerosus to better determine the role of ECM1 in the skin pathology observed in these disorders. METHODS: Labeling of skin biopsies (lipoid proteinosis, lichen sclerosus and control skin) with antibodies to type IV collagen and laminin-1 and reconstruction of the dermal blood vessels using laser confocal microscopy and computer imaging. RESULTS: In both lipoid proteinosis and lichen sclerosus there was reduplication of the basement membranes surrounding blood vessel walls. There were enlarged vessels in the mid and deep dermis that were orientated parallel to the dermal-epidermal junction. In addition, the normal capillary loop network in the dermal papillae, as well as the subcutaneous plexus and transverse connecting vessels were lacking in both disorders. CONCLUSION: This study demonstrates that skin microvasculature is grossly altered when ECM1 is targeted by inherited mutations (lipoid proteinosis) or acquired autoantibodies (lichen sclerosus) and that this glycoprotein appears to have an important role in regulating blood vessel physiology and anatomy in the skin.

Base Sequence↗
PubMed1987

Lipoid proteinosis: ultrastructural and biochemical studies.

Lipoid proteinosis, a rare autosomal recessive disease, is histologically characterized by deposition of hyalinlike material in the dermis. In this study the pathologic processes of lipoid proteinosis were evaluated by ultrastructural and biochemical analysis of skin and cultured fibroblasts from a patient with classic features of the disease. Transmission electron microscopy revealed the presence of hyalinlike material with a granular appearance interspersed between collagen fibers. Immediately surrounding the blood vessel walls, there was reduplication of basal laminae in an "onionskin" arrangement. The fibroblastic cells in the affected dermis contained peculiar cytoplasmic inclusions. Biochemical studies with the cultured fibroblasts showed that the total synthesis of extracellular matrix components, as detected by the synthesis of radioactive hydroxyproline or the incorporation of 35SO4(2-) and [3H]glucosamine into macromolecules, was not altered in lipoid proteinosis. However, the relative expression of type I and type III procollagen genes, as detected by molecular hybridizations with pro-alpha 1(I) and pro-alpha 1(III) procollagen complementary deoxyribonucleic acid probes, was markedly altered in cultured fibroblasts. Specifically, the type I procollagen messenger ribonucleic acid (mRNA) levels were significantly reduced, resulting in a decreased type I/III procollagen mRNA ratio. Furthermore, the replicative capacity of lipoid proteinosis fibroblasts, as detected by the incorporation of radioactive thymidine, was reduced. Thus the skin fibroblasts from lipoid proteinosis demonstrate ultrastructural changes, as well as alterations in their phenotypic characteristics, and these changes may have relevance to the pathologic processes of this systemic disease affecting the skin and other organs.

Adult↗
PubMed2006

Amygdalae calcifications associated with disease duration in lipoid proteinosis.

OBJECTIVES: To describe imaging findings of central nervous system involvement in patients with lipoid proteinosis. METHODS: Patients with lipoid proteinosis followed in the dermatology and neurology departments of the State University of Campinas between 2002 and 2004 were evaluated using high-resolution MRI and computerized tomography (CT). RESULTS: We reviewed the charts of three patients (two women) with lipoid proteinosis with, ages ranging from 5 to 44 years. Symptomatic disease duration ranged from 2 to 39 years. MRI scans showed hypointense signal in FLAIR and T2 images in the amygdalae in two of three patients. Brain CT scans from two patients showed that MRI findings were calcifications. The calcification was more evident in patients with longer disease duration. Epilepsy was identified in one patient with longer disease duration. No other epileptogenic lesion was identified on MRI in this patient. CONCLUSION: Lipoid proteinosis is associated with bilateral amygdalae calcification. These findings were more evident in patients with longer disease duration. Epilepsy, when present, may be related to these calcifications. Patients with lipoid proteinosis should be followed with MRI/CT in order to identify these abnormalities.

Adult↗
PubMed2004

[Unilateral ptosis in the background of unilateral corneal arcus lipoides -- a case report].

BACKGROUND: Arcus lipoides corneae is a common bilateral degenerative disorder with ageing but only rarely occurs unilaterally. Clinically visible cream-coloured ring-shaped corneal opacities are caused by excessive lipoid deposits in the corneal stroma. Our aim is to discuss theoretical aspects of the possible impact and pathomechanism of unilateral ptosis in unilateral arcus lipoides. CASE REPORT: The authors report the case of a 70-year-old female patient who was treated for chronic pancreatitis and hyperlipoproteinemia. She had congenital ptosis on the left side, and an arcus lipoides corneae in her left eye. The patient underwent extracapsular cataract extraction, and irregular high-grade astigmatism developed. An irregularity of the wound healing was apparent from the keratometric values, which decreased after removal of the corneal sutures. CONCLUSION: The known etiological factors of unilateral arcus lipoides, like contralateral stenosis of the internal carotid artery, traumatic or iatrogenic hypotony, chronic iridocyclitis of the eye were absent in our patient.

Aged↗
PubMed2004

False-positive PET scan in a patient with lipoid pneumonia simulating lung cancer.

PURPOSE: Lipoid pneumonia usually presents with alveolar infiltrates or as a nonresolving process. We report a case of lipoid pneumonia that presented as a solitary pulmonary nodule and had a high standard uptake value on PET scan, thereby mimicking a malignant process. This case highlights the presence of false-positive PET imaging in a patient with lipoid pneumonia and Mycobacterium chelonae infection. MATERIALS AND METHODS: The patient was examined using CT scanning. The nodule was further investigated with a PET scan using F-18 FDG and the standard uptake value was determined. RESULTS: Histopathology following removal of the nodule confirmed the diagnosis of lipoid pneumonia, and the bronchoalveolar lavage (BAL) was reported as M. chelonae, a rapidly growing mycobacterium (RGM). CONCLUSION: Lipoid pneumonia can present as a PET-positive lung nodule and should be considered in the differential diagnosis and workup of a solitary pulmonary nodule.

Aged↗
PubMedDate not supplied

Corneal topography parameters after superior clear corneal incision cataract surgery in arcus lipoides.

PURPOSE: To compare changes in corneal topographic parameters after cataract surgery in eyes with different severities of arcus lipoides. METHODS: Fourty eyes of 40 patients (23 women, 17 men, age 71.3+/-20.4 years, range 40 to 89 years) were studied prospectively in a consecutive, non-interventional, comparative series of cases. Eyes were classed in three groups (0 to 2) according to the assessed grade of arcus lipoides (none, <180 degrees, >180 degrees). Corneal topography (Tomey TMS-2) was performed preoperatively and at 1 and 10 days and 1 and 3 months following cataract surgery (superior 4.0 mm clear corneal incision, no suture). Keratometric astigmatism (Dcyl), surface regularity index (SRI), surface asymmetry index (SAI), and potential visual acuity (PVA) were evaluated for the different groups and time-points, using the Kruskal-Wallis, Wilcoxon, and Mann-Whitney statistical tests. RESULTS: No significant preoperative difference was found in mean Dcyl, SRI, or PVA; preoperative SAI was lower in Group 1. Postoperatively Dcyl was increased at day 1 in Groups 1 and 2, and remained higher in Group 2 until month 1. At month 3 significant differences among Groups 0, 1, and 2 disappeared. CONCLUSIONS: The 4.0 mm superior clear corneal incision is a safe method for cataract surgery in the presence of arcus lipoides. This procedure induces greater corneal astigmatism, surface irregularity, and lower PVA in the early postoperative period in cases with arcus lipoides than in normal corneas. Concerning final results, wound healing was not affected by greater severity of arcus lipoides, although stabilization of the corneal surface tended to be slower.

Adult↗
PubMed2004

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings.

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH, eventually destroying all adrenal and gonadal steroidogenesis. Lipoid CAH is caused by mutations in the steroidogenic acute regulatory protein (StAR), which facilitates the entry of cholesterol into mitochondria to initiate steroidogenesis. Patients with lipoid CAH typically present with a salt-losing crisis in the first 2 months of life, although presentation as late as 10 months with partial retention of StAR activity has been reported. We describe eight patients from six Saudi Arabian families who were first diagnosed at 1-14 months of age (median, 4-7 months; mean, 7 months). Five patients were 46,XY, and three were 46,XX. At presentation, all had hyponatremia, hyperkalemia, elevated ACTH, and low cortisol. Pregnenolone, progesterone, 17-hydroxypregnenolone, 17-hydroxyprogesterone, testosterone, androstenedione, and dehydroepiandrosterone sulfate were all low in those patients in whom it was measured. DNA sequencing showed that one patient was homozygous for the StAR mutation M144R, and the other seven, from five apparently unrelated families, were homozygous for the StAR mutation R182H. Each mutation was recreated in a human StAR cDNA expression vector and found to be wholly inactive in a standard assay of COS-1 cells cotransfected with the cholesterol side-chain cleavage enzyme system. Thus, the loss of all assayable activity in vitro correlated poorly with the later onset of clinical symptoms in these patients. Lipoid CAH may present much later in life than previously thought.

Adolescent↗
PubMed1994

No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia.

Molecular basis of lipoid adrenal hyperplasia (lipoid CAH) in a Japanese patient was investigated. A 46XY Japanese female patient was clinically diagnosed as having lipoid CAH based on her clinical history of adrenal crisis at birth and the low basal concentrations of cortisol, aldosterone, adrenal androgens and testosterone in serum. In vitro studies of testicular mitochondrial enzymes confirmed a specific impairment of cholesterol side chain cleavage (SCC) activity. However, in spite of the virtual reduction of SCC activity, the amounts of immunodetectable P450scc, adrenodoxin reductase, and adrenodoxin in testicular mitochondria were almost same as those of normal testis. Furthermore, the size of each protein was similar to that of normal testis. Enzymatic amplification of the complementary DNA encoding P450scc from the patient's testis RNA and its nucleotide analysis by direct sequencing revealed no mutation. These results indicate that defective P450scc is not the lesion in this patient, confirming a previous report showing no P450scc mutations in patients with lipoid CAH. The exact lesion causing lipoid CAH in this patient is currently unknown.

Adolescent↗
PubMed1997

Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein.

The most severe form of congenital adrenal hyperplasia (CAH) is lipoid CAH. It was once thought that this disease was due to mutations in the cholesterol side-chain cleavage enzyme system, thus eliminating the ability to convert cholesterol to pregnenolone, causing a complete absence of steroid hormone production. We recently showed that lipoid CAH is due to mutations in the steroidogenic acute regulatory (StAR) protein, thus preventing acutely stimulated adrenal and gonadal responses to tropic stimulation. However, this lesion may permit low levels of StAR-independent steroidogenesis to persist until the accumulation of intracellular lipid deposits destroys steroidogenic capacity. This model would predict that the steroidogenic cells of the ovaries of affected 46,XX females should remain undamaged until puberty, at which time low levels of StAR-independent estrogen biosynthesis should be detectable. We describe a 15.5-yr-old 46,XX female with a classic history of lipoid CAH who underwent spontaneous feminization and cyclical vaginal bleeding beginning at age 13. Genetic analysis of the patient and her parents showed that she was homozygous for the novel StAR frameshift mutation 261delT. This is the first adolescent female with lipoid CAH who has undergone spontaneous feminization and who has been analyzed genetically. Finding an inactive StAR gene in this patient confirms our two-hit model of the pathogenesis of lipoid CAH, in which loss of StAR activity initially preserves StAR-independent steroidogenesis, which is lost only after cells undergo chronic tropic stimulation and subsequent damage from accumulation of cholesterol esters.

Adolescent↗
PubMed1997

A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.

Congenital lipoid adrenal hyperplasia (lipoid CAH) is a relatively common genetic disorder of adrenal and gonadal steroidogenesis and is the most severe form of CAH. As typical affected individuals cannot produce any steroid hormones or can only produce low levels of steroid hormones in the adrenals and gonads, including glucocorticoids, mineralcorticoids, and sex steroids, a genetic defect in the cholesterol side-chain cleavage enzyme, cytochrome P450scc (CYPXIA1), has been postulated to be the cause of their insufficient production to date. Recently, Lin and co-workers proved a link between mutations of the steroidogenic acute regulatory protein (StAR) gene and the lipoid CAH phenotype. Therefore, we investigated both the cytochrome P450scc and StAR genes in a Korean family with a fairly mild form of lipoid CAH to identify the mutation(s) causing this disease. The result was that no mutations could be found in the two genes, except for a thymine (T) insertion into intron 2 of the StAR gene, 3 bp from the splice donor site of exon 2. PCR-amplified StAR genes from a normal subject and the patient were cloned into an expression vector and then introduced into COS-7 cells. Northern blot and reverse transcriptase-PCR analyses indicated that the StAR messenger ribonucleic acid derived from the vector with the normal StAR gene spliced exons 2 and 3 correctly, whereas most, but not all, StAR messenger ribonucleic acid derived from the vector with the T-inserted StAR gene could not remove intron 2. We concluded from these results that the T insertion into the StAR gene accounts for the lipoid CAH phenotype in this patient.

Adrenal Hyperplasia, Congenital↗
PubMed2000

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

Congenital lipoid adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is caused by mutations in the steroidogenic acute regulatory protein (StAR). Lipoid CAH is common among the Japanese, Korean, and Palestinian Arab populations, but is rare elsewhere. We describe six patients with lipoid CAH: four Japanese, one Palestinian, and one Guatemalan Native American. All had classical clinical presentations of normal female external genitalia in both genetic sexes, with severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. Quite atypically, one patient had small adrenal glands shown by computed tomographic scanning. The StAR genes were characterized in all six patients. Three of the Japanese patients were compound heterozygotes for the common Japanese mutation Q258X in association with three different novel frameshift mutations; the fourth Japanese patient was homozygous for the mutation R182L, which is common among Palestinian patients but has not been described previously in a Japanese patient. Our Palestinian and Native American patients were each homozygous for novel frameshift mutations. Thus we have found five new frameshift mutations, but no new amino acid replacement (missense) mutations. This would be consistent with the view that only a small number of residues in the StAR protein are crucial for biological activity. The tomographic finding of small adrenals in a patient with genetically proven lipoid CAH due to a StAR mutation suggests a substantially broader spectrum of clinical findings in this disease than has been appreciated previously.

Adrenal Hyperplasia, Congenital↗
PubMed2003

Vesicular lesions in a patient with lipoid proteinosis: a probable acantholytic dermatosis.

Lipoid proteinosis is a rare genodermatosis with characteristic clinical and histologic findings later in life. We present a case of lipoid proteinosis in which the diagnosis was originally missed because the patient presented in childhood with vesicles and a hoarse voice and lacked any other manifestations. Microscopic examination of a vesicle revealed extensive non-dyskeratotic acantholysis. Vesiculo-bullous lesions have been described clinically in lipoid proteinosis, but we are unaware of any histopathologic description regarding bullae formation. Although only a single patient is herein described, it seems unlikely that this type of acantholysis is purely coincidental. It is proposed that lipoid proteinosis should be in the differential of acantholytic vesiculo-bullous lesions in a child.

Acantholysis↗