Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Hyperpigmentation”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,081 records · Page 60Linked to original sources
PubMed1985

Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.

A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.

Abnormalities, Multiple↗
PubMed1991

Trisomy 14 mosaicism in a 5-year-old boy.

We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes. He had mosaicism of 46,XY/47,XY, + 14 in a ratio of 3:1. Comparisons are made with the other reports of trisomy 14 mosaicism and relationship to incontinentia pigmenti.

Abnormalities, Multiple↗
PubMed1993

Mosaic 5p tetrasomy.

We report on a mildly abnormal 5-year-old girl with seizures, psychomotor retardation, and areas of hyperpigmentation who had a supernumerary marker chromosome in fibroblasts which was identified as an i(5p). To our knowledge, this is the first reported case of tetrasomy 5p. She shares in common some, but not all, manifestations of the dup (5p) syndrome. Cytogenetic analysis of relatives showed that the phenotypically apparently normal mother, maternal grandmother, and a brother of the proband also had a marker chromosome in their lymphocytes which was unrelated to the i(5p).

Abnormalities, Multiple↗
PubMed1995

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.

We report on a black male child with congenital hypoplasia of the adrenal gland (CHA) with a de novo duplication of 5p [dir dup(5) (p13.3-->p15.1)], confirmed by fluorescence in situ hybridization (FISH). In addition to a characteristic clinical course, the patient has hyperpigmentation (melanoderma) since birth, normal external genitalia, marked elevation of ACTH, and absent response to an IV ACTH challenge. To the best of our knowledge, this is the first case of congenital hypoplasia of the adrenal gland associated with a chromosome abnormality. Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3-pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11-p13.2 apparently causes far more deleterious changes. The concurrence of CHA and dup(5p) in our patient may indicate the possible gene localization of an autosomal form of CHA to either at or near 5p13.3 or 5p15.1.

Adrenal Glands↗
PubMed1995

Follow-up study in a patient with Setleis syndrome.

We report on an 8-year-old Japanese boy with Setleis syndrome. The patient had a very characteristic "coarse" facial appearance, bitemporal "forceps marks," skin aplasia, sparse hair, and skin hypo- and hyperpigmentation. He also had previously undescribed manifestations, including an aberrant hair pattern of the forehead, linear skin lesions on the forehead, short palpebral fissures, a small skin tag on the right cheek, cone-shaped teeth, and pectus carinatum. Dermatoglyphic studies documented aberrant distal palmar creases (simian crease variant), 8 arches, and reduced total finger ridge count. When serial photographs were reviewed, his facial characteristics became more obvious with increasing age.

Child↗
PubMed2003

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.

Abnormalities, Multiple↗
PubMed2003

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son.

Carrier Proteins↗
PubMed2004

DEB test for Fanconi anemia detection in patients with atypical phenotypes.

Pancytopenia, hyperpigmentation, small stature, congenital abnormalities, and predisposition to neoplasia characterize Fanconi anemia (FA). The clinical phenotype is extremely variable, therefore the diagnosis is frequently delayed until the pancytopenia appears, making diagnosis difficult on the basis of clinical manifestations alone. Hypersensitivity of FA cells to the clastogenic effect of diepoxybutane (DEB) provides a unique marker for the diagnosis before the beginning of hematological manifestations. Our aim in this study was to detect FA in children with atypical manifestations to define which conditions should be routinely included in the DEB test screening. We performed the chromosomal breakage test in 34 patients with probable FA and 83 patients with clinical conditions that could suggest FA, but are not usually screened by the DEB test: 20 patients with aplastic anemia, 20 patients with VACTERL association, 20 with radial ray abnormalities, 7 with tracheo-esophageal fistulae, 12 with anal atresia, and 4 with myelodysplastic syndrome. We found 18 DEB-positive patients: 12 were in the group of probable FA and 6 in the other groups. Among the last ones: three were included because of aplastic anemia, without any other sign of FA, however when re-examined, other anomalies were detected. The third patient had anal atresia, renal hypoplasia, pre-axial polydactyly, and normal blood cell counts and was diagnosed as having VACTERL association. The other two patients lacking physical or hematological signs were identified among the group of radial ray abnormalities. Thus, our results highlight the need to increase the number of abnormalities indicating need for a DEB test. Delay in the diagnosis of FA may have serious consequences for the patients and their family members.

Adult↗
PubMed2004

A case of Costello with parathyroid adenoma and hyperprolactinemia.

A 23-year-old female with Costello syndrome is presented. She had mental retardation, macrocephalia, "coarse" facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, and a history of hyperprolactinemia since the age of 16. Her present complaint was weakness and widespread bone-pain. In routine biochemistry, she had an elevated calcium level of 11.1 (8.6-10.2) mg/dl and her DEXA evaluation was consistent with osteoporosis (vertebra and femur T score <-2.5). High PTH levels, 103 (8-78) pg/ml, suggested presence of a parathyroid adenoma. Tc-MIBI scintigraphy revealed two focuses of pathological uptake, one located inferior to left lobe of thyroid and the other in the superior left lobe of thyroid gland. After parathyroid adenomectomy, her serum calcium and PTH levels returned to normal values. This is the first case of parathyroid adenoma and hyperprolactinemia in the literature, reported in a patient with Costello syndrome.

Abnormalities, Multiple↗
PubMed2005

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,+7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

Aneuploidy↗
PubMed2006

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop neoplasia. Based on similarities with other cancer syndromes, we previously hypothesized that CS is likely due to activation of signal transduction through the Ras/MAPK pathway [Tartaglia et al., 2003]. In this study, the HRAS coding region was sequenced for mutations in a large, well-characterized cohort of 36 CS patients. Heterogeneous missense point mutations predicting an amino acid substitution were identified in 33/36 (92%) patients. The majority (91%) had a 34G --> A transition in codon 12. Less frequent mutations included 35G --> C (codon 12) and 37G --> T (codon 13). Parental samples did not have an HRAS mutation supporting the hypothesis of de novo heterogeneous mutations. There is phenotypic variability among patients with a 34G --> A transition. The most consistent features included characteristic facies and skin, failure to thrive, developmental delay, musculoskeletal abnormalities, visual impairment, cardiac abnormalities, and generalized hyperpigmentation. The two patients with 35G --> C had cardiac arrhythmias whereas one patient with a 37G --> T transversion had an enlarged aortic root. Of the patients with a clinical diagnosis of CS, neoplasia was the most consistent phenotypic feature for predicating an HRAS mutation. To gain an understanding of the relationship between constitutional HRAS mutations and malignancy, HRAS was sequenced in an advanced biphasic rhabdomyosarcoma/fibrosarcoma from an individual with a 34G --> A mutation. Loss of the wild-type HRAS allele was observed, suggesting tumorigenesis in CS patients is accompanied by additional somatic changes affecting HRAS. Finally, due to phenotypic overlap between CS and cardio-facio-cutaneous (CFC) syndromes, the HRAS coding region was sequenced in a well-characterized CFC cohort. No mutations were found which support a distinct genetic etiology between CS and CFC syndromes.

Abnormalities, Multiple↗
PubMed1993

Patterns of venous reflux in limbs with skin changes associated with chronic venous insufficiency.

The distribution of venous reflux in patients with skin changes associated with chronic venous insufficiency presenting to a specialist clinic was assessed. A total of 300 limbs in 153 patients were examined by Doppler ultrasonography with colour-flow imaging for the presence of venous reflux in superficial veins, deep veins and medial perforating veins, both above and below the knee. Ninety-eight limbs had skin changes, which included hyperpigmentation, lipodermatosclerosis, atrophie blanche and ulceration. Of this group, 2 per cent had no evidence of venous reflux on duplex scanning, 39 per cent had deep vein incompetence, 57 per cent had superficial vein incompetence and 2 per cent had isolated medial perforating vein reflux. Of 25 limbs with ulceration, 13 had superficial and 12 deep vein reflux. A total of 202 legs, which included 20 normal control limbs, had no skin changes; 22.3 per cent of these had no venous reflux, 8.4 per cent had deep vein incompetence, 65.3 per cent had superficial incompetence and 4.0 per cent had isolated medial calf perforating vein incompetence.

Adolescent↗
PubMed2005

Synthesis of methyl ether analogues of sildenafil (Viagra) possessing tyrosinase inhibitory potential.

The microwave-assisted synthesis and characterization of the ten new sildenafil (Viagra; 1) analogues 6-15 are described. A detailed structure-activity-relationship (SAR) study revealed that compounds 10 (= 4-ethoxy-N-hydroxy-3-(7-methoxy-1-methyl-3-propyl-1H-pyrazolo[4,3-d]pyrimidin-5-yl)benzenesulfonamide) and 12 (= S-(2-hydroxyethyl) 4-ethoxy-3-(7-methoxy-1-methyl-3-propyl-1H-pyrazolo[4,3-d]pyrimidin-5-yl)benzenesulfonothioate) are extremely potent mushroom tyrosinase inhibitors, with IC50 values (3.59 and 2.15 microM, resp.) below those of the standard inhibitors L-mimosine and kojic acid (IC50 = 3.68 and 16.67 microM, resp.). Compounds 10 and 12 are, thus, the currently most-effective inhibitors of tyrosinase, and bear great potential to be used for the treatment of various skin disorders such as hyperpigmentation, which is associated with high production of melanocytes.

Molecular Structure↗
PubMed2006

Long-term cosmetic results and toxicity after accelerated partial-breast irradiation: a method of radiation delivery by interstitial brachytherapy for the treatment of early-stage breast carcinoma.

BACKGROUND: The objective of this study was to assess the cosmesis and toxicities in patients with early-stage breast carcinoma who received treatment with accelerated partial breast irradiation (APBI) using interstitial brachytherapy. METHODS: From April 1993 to December 2001, 199 patients with Stage I-II breast carcinoma received breast-conserving therapy with APBI to the tumor bed alone through a low-dose-rate (LDR) or high-dose-rate (HDR) implant. A template guide was used. The LDR dose was 50 Gray (Gy) over 96 hours; the outpatient HDR implant delivered 32 Gy in 8-Gy or 34 Gy in 10-Gy twice-daily fractions. Cosmesis (Harvard criteria) and toxicities (Radiation Therapy Oncology Group guidelines) were assessed at < or = 6 months, 2 years, and 5 years. RESULTS: The median follow up was 6.4 years. Breast pain, edema, erythema, and hyperpigmentation all diminished over time. Breast fibrosis and hypopigmentation increased until the 2-year mark and then stabilized. Fat necrosis and telangiectasia increased over time, with a fat necrosis rate of 11% at 5 years. Nearly all telangiectasias (34% at 5 yrs) were Grade 1 (< 2 mm). The remaining toxicities were Grade 1 at all follow-up intervals. Infections (11%) occurred predominantly within the first month after treatment. Good-to-excellent cosmetic outcomes were noted in 95-99% of patients over time; cosmetic results stabilized at 2 years with excellent results increased out to 5 years. CONCLUSIONS: APBI with interstitial brachytherapy resulted in mild chronic toxicities, the majority of which diminished or reached a plateau over time. Long-term cosmesis was good to excellent in 95-99% of patients and stabilized at 2 years.

Adult↗
PubMedDate not supplied

Familial benign chronic intrahepatic cholestasis.

Three of four adult siblings in a family which was studied for three generations had clinical and/or laboratory signs of slowly progressive intrahepatic cholestasis. Slight hyperpigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase in serum transaminase, gamma-glutamyltranspeptidase, and alkaline phosphatase activities. Asymptomatic intervals were characterized by abnormal bromosulfophthalein retention, reduced N-demethylation capacity, elevated fasting total serum bile acid levels, and normal light microscopic findings. A high serum alpha-lipoprotein level was found in individuals affected with this hitherto unknown entity which appears to have an autosomal recessive mode of inheritance.

Adult↗
PubMed1985

Therapeutic trial of plasma exchange in osteosclerotic myeloma associated with the POEMS syndrome.

A patient with osteosclerotic myeloma and POEMS syndrome, unresponsive to pulse prednisone and melphalan therapy, was admitted to the hospital for a trial of plasma exchange therapy. The presentation included IgG lambda monoclonal gammopathy, peripheral neuropathy, hepatosplenomegaly, hyperpigmentation and thickening of the skin, edema, and tense ascites. Laboratory tests confirmed hypothyroidism, hypogonadism, and adrenal insufficiency. Six exchange procedures failed to affect the clinical course, and the patient died. Greater-than-one-plasma-volume exchanges (patient's measured plasma volume, 2,703 cc) were performed. When IgG and cholesterol removal were compared to the predicted removal, based on the volume of plasma removed, significantly less reduction in concentration than predicted was measured. IgG concentrations increased postapheresis and, at 2 weeks, three-fourths of the removed IgG had reaccumulated. A reduced efficiency of removal of both IgG and cholesterol can be explained by postulating increased vascular permeability with free exchange of soluble substances from one compartment to another. If an abnormal product is produced by the disease and is responsible for the clinical syndrome, a more intensive schedule of plasma exchange therapy may be needed to achieve a sustained depletion of the responsible soluble substance. Alternatively, neither increased vascular permeability or the clinical manifestations are responsive to removal of a soluble substance or are caused by a soluble substance produced by the malignancy.

Adrenal Insufficiency↗
PubMed2002

Preliminary study of fine changes in the duration of dynamic cooling during 755-nm laser hair removal on pain and epidermal damage in patients with skin types III-V.

BACKGROUND AND OBJECTIVES: The use of the long-pulsed 755-nm alexandrite laser has been an effective tool in hair removal. A dynamic cooling device (DCD) is commonly used with this laser in order to minimize epidermal damage. No studies have examined how fine changes in DCD duration may affect comfort and epidermal damage during laser hair removal. This study was designed to determine what effect, changes in the duration of dynamic cooling would have on pain and epidermal damage with laser hair removal (755 nm alexandrite) in patients with darker skin types. STUDY DESIGN/MATERIALS AND METHODS: Ten volunteers with Fitzpatrick skin types III-V were enrolled. A 755-nm alexandrite laser with a pulse duration of 3 milliseconds and equipped with a DCD was used with the 12 mm spot size on matched treatment sites. We compared cryogen spurt durations of 0, 20, 40, 60, 80, and 100 milliseconds on pain and epidermal changes. The spray delay was set at 1 millisecond. Pain rating scales and epidermal changes (skin sloughing, hyperpigmentation, hypopigmentation and scarring) were assessed. RESULTS: Overall a decrease in pain was seen with increases in spurt duration. A spurt duration of 20 milliseconds was beneficial for pain reduction in all patients. Longer spurt durations were associated with additional pain relief especially when geographic spacing of pulses was maximized to prevent thermal build-up. In regards to epidermal protection, most patients benefited with shorter cryogen durations of 20-60 milliseconds. There was little advantage with longer spurt durations. Some patients treated at higher fluences without cooling had no detectable side effects. CONCLUSIONS: Increasing DCD spurt duration in laser hair removal provides its strongest benefit in the area of pain reduction, particularly in type V patients. Increasing cryogen spurt durations above a protective threshold shows no significant benefit in terms of epidermal protection. Changing the spurt duration may not be as important in some patients with darker skin types.

Cold Temperature↗
PubMed2002

Evaluation of the long pulsed high fluence alexandrite laser therapy of leg telangiectasia.

BACKGROUND AND OBJECTIVES: The treatment of larger leg veins with laser or intense pulsed light often shows varying degrees of success and inconsistent clinical response rates. Aim of this study was to evaluate the effectiveness and safety of the 755 nm long pulsed high fluence alexandrite laser in the treatment of larger leg veins. STUDY DESIGN/MATERIALS AND METHODS: Twenty female volunteers aged 25-51 years (mean 39) with 0.3-1.3 mm leg telangiectasias received laser treatment, 10 of them with an additional pass done right after the first pass. Their skin type ranged from 1 to 3 (five type 1, seven type 2, eight type 3). After test spots with increasing fluences (40-90 J/cm(2)) to determine the individual safe fluence, the maximum fluence of 90 J/cm(2) could be used in all 20 subjects. The spot size was 3 x 10 mm, a spray cooling system was used with 80 milliseconds spray and delay time, respectively. The number of pulses administered ranged from 30 to 467 per subject (mean 139). The treated area was controlled 1 day, 1 month, and 3 months post-treatment and the side effects were quantified. At each visit, the treatment area was photographed. The percent clearance in the treated areas was scored by two observers. Subject satisfaction was evaluated at the 3 months post-treatment visit. RESULTS: After 3 months, in all 20 test subjects some clearance was visible. It ranged from low-grade to complete clearance. Most subjects (15 of 20) had a clearance between 26 and 75%. Hyperpigmentation was observed in 15 subjects. Hypopigmentation was seen in two subjects. No edema, no purpura, no erythema, no scarring, no blistering, and no crusts were observed. Mean subject satisfaction score was assessed and all volunteers reported to be "satisfied." CONCLUSIONS: The long pulsed high fluence alexandrite laser is effective and safe in the treatment of leg veins 0.3-1.3 mm in diameter.

Adult↗