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PubMed2000

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. Most patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome (known as haemophagocytic syndrome, HS), leading to death in the absence of bone-marrow transplantation. In contrast, early in life some GS patients show a severe neurological impairment without apparent immune abnormalities. We previously mapped the GS locus to chromosome 15q21 and found a mutation in a gene (MYO5A) encoding a molecular motor in two patients. Further linkage analysis suggested a second gene associated with GS was in the same chromosomal region. Homozygosity mapping in additional families narrowed the candidate region to a 3.1-cM interval between D15S1003 and D15S962. We detected mutations in RAB27A, which lies within this interval, in 16 patients with GS. Unlike MYO5A, the GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB27A mutations, but none with the MYO5A mutation, developed HS. In addition, RAB27A-deficient T cells exhibited reduced cytotoxicity and cytolytic granule exocytosis, whereas MYO5A-defective T cells did not. RAB27A appears to be a key effector of cytotoxic granule exocytosis, a pathway essential for immune homeostasis.

B-Lymphocytes↗
PubMed1994

Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy.

We report on 2 cases of diploid/tetraploid (2n/4n) mixoploidy in surviving females, 11 and 21 years old. Both individuals manifested severe mental retardation, reduced peripheral limb muscle bulk, asymmetric growth deficiency, seizure disorder, and skin pigmentary dysplasia. Previous lymphocyte karyotypes had been normal on 2 occasions, but when skin fibroblast karyotypes were done, 33% of the cells were tetraploid on the younger woman, and over 60% were tetraploid in the older woman (on 2 separate occasions). In both individuals, the distal limbs and digits were long and thin, with reduced small muscle bulk. The similarity in distal limb findings prompted reexamination of the younger woman's chromosomal constitution in skin fibroblasts. We concluded that the clinical findings in these cases are unique and similar, and we caution clinicians about uniformly dismissing tetraploidy as artifactual in amniocytes from normal patients, especially since this phenotype would be very difficult to detect, even with directed prenatal ultrasonography. We compare the 2n/4n phenotype with that in diploid/triploid (2n/3n) mixoploidy and note subtle differences which might be detected postnatally. These findings should be useful in guiding clinicians on when to request skin fibroblast karyotypes in mentally-deficient individuals with asymmetric growth deficiency and pigmentary skin variation.

Abnormalities, Multiple↗
PubMed2002

Laser treatment of congenital facial port-wine stains: long-term efficacy and complication in Chinese patients.

BACKGROUND AND OBJECTIVE: Pulsed dye laser (585 nm, 450 micros) and variable pulse width frequency doubled Nd:YAG 532 nm laser have been proven to be effective in treating vascular lesions in Caucasians especially in facial port-wine stain. Their roles in dark-skinned Asian have not been determined. The objective of this study was to assess the long-term outcome and complication of laser treatment of congenital facial port-wine stain in Chinese patients retrospectively. STUDY DESIGN/MATERIALS AND METHODS: Files of all patients with port-wine stains who had received laser treatment in a major regional laser center in a 5-year period were reviewed. Chinese patients with congenital facial port-wine stains were recruited for the study. They were called back for questionnaire assessment of their degree of clearance and clinical examination for treatment complication. Detail demographics, result of questionnaire and clinical examination were entered into a database and statistical analyses were conducted where applicable. RESULTS: One hundred and seven patients with congenital facial port-wine stain were recruited for the study. Thirty-six patients had received PDL treatment, 40 patients had VP532 treatment and 31 patients had been treated by both laser systems. A total of 665 treatment sessions had been performed with an average of 6.1 +/- 2.8 sessions (range 3-12). They had been followed-up from 2 to 5 years with a mean period of 3.4 +/- 1.1 years. Over 60% of patients had more than 25% of clearing and the majority of patients (41.1%) had 25-50% of clearing. Less than one-quarter of patients (23%) experienced a clearing more than 50% and no patient had complete clearing. There was no significant difference in the subjective assessment of clearing between patients that had different forms of laser treatments. No patient had recurrence of pigmentation after treatment. Fourteen percent of patients experienced complications and the majority of them had pigmentary changes. Sex, age, number of treatment session, and type of laser machine used were not related to a higher complication rate using the multiple regression analysis. CONCLUSIONS: Chinese patients were less responsive to laser treatment with higher complication rate. In addition, more treatment sessions were required to achieve a maximum clearing. However, most of our patients were satisfied with laser treatment (Patient Satisfaction Score=7.25). Dark-skinned patients should not be excluded from laser therapy provided that treatment expectations and risks are fully discussed.

Adult↗
PubMedDate not supplied

Hypomelanosis of Ito.

A two-year-old male child presented with bizarre hypopigmented skin lesions, severe mental retardation and generalized tonic-clonic seizures. Examination showed hypopigmented patterned whorls and irregular patches over the trunk and linear streaks over the flexor aspects of upper and lower limbs. He also had generalized hypertonia and brisk tendon reflexes. Other systems were normal.

Child, Preschool↗
PubMed1995

Dye laser treatment of port-wine stains: comparison of the continuous-wave dye laser with a robotized scanning device and the pulsed dye laser.

BACKGROUND: Despite good results in the treatment of most port-wine stains (PWS) with continuous-wave visible-light lasers, light PWS and those in certain locations respond less favorably and have a higher risk of scarring. Robotized scanning devices such as the Hexascan device have been developed for continuous-wave laser sources to produce greater target specificity, to increase reproducibility of results, and to decrease the incidence of adverse effects. OBJECTIVE: The purpose of this study was to compare the effects of the same wavelength of light (585 nm) on test sites within PWS with the flashlamp-pumped pulsed dye laser and a continuous-wave tunable dye laser scanned through a Hexascan robotized scanning device. METHODS: Two adjacent, noncontiguous sites within PWS were treated in 29 patients, one site with the flashlamp-pumped pulsed dye laser and the other with an argon-pumped continuous-wave tunable dye laser affixed to a Hexascan device. RESULTS: Twenty-eight patients completed the study. The pulsed dye laser was found to be superior to the continuous-wave dye laser with the Hexascan device in 45% of patients, whereas the continuous-wave tunable dye laser with the Hexascan device was considered superior in 15%. There was no difference in the remaining 40%. Undesirable side effects were infrequent with both treatments. There was no significant difference in hypopigmentation or atrophic and hypertrophic scarring, but hyperpigmentation was more frequent with the continuous-wave dye laser with the Hexascan device. CONCLUSION: Both the pulsed dye laser and continuous tunable-wave dye laser with the Hexascan device produce slight lightening after one treatment. The pulsed dye laser produces slightly greater lightening than the continuous-wave tunable dye laser with the Hexascan device 6 weeks after treatment of test areas within PWS in 40% of those treated. It also produced slightly less hypopigmentation and hyperpigmentation.

Adolescent↗
PubMed2002

Graphic analysis of the relationship between skin colour change and variations in the amounts of melanin and haemoglobin.

BACKGROUND/AIMS: The L*a*b* coordinate is the most commonly used colour system to measure skin colour in dermatology and cosmetology. In this system, a* and L* are often used for quantification of the degrees of erythema and pigmentation. The aim of this study was to examine whether a* and L* can be used as specific scales to indicate the amount of haemoglobin and melanin, respectively, in the skin. METHODS: The a* and L* values were examined with a reflectance spectrometer in various skin conditions or lesions caused by a change in the amount of either melanin or haemoglobin, i.e. vitiligo, ultraviolet-induced pigmentation (PG), erythema resulting from slapping (ER), corticosteroid-induced blanching, erythema due to stasis by arm lowering, and a combination of PG and ER. The differences in values between the test sites and the adjacent normal skin, deltaa* and deltaL*, were plotted on the deltaa*-deltaL* plane and analysed statistically and geometrically. RESULTS: L* depended substantially not only on melanin but also on haemoglobin, especially if the oxygen saturation level was expected to be low. a* was also influenced by melanin. The results of graphic analysis indicated that a linear transformation of (deltaa*, deltaL*) into (deltaHb = 1.68 deltaa* + 0.60 deltaL*, deltaMel =-1.06 deltaa*-1.44 deltaL*) was suitable for separately estimating the change in the amount of haemoglobin (deltaHb) and in that of melanin (deltaMel). CONCLUSION: The results of this study may be of value for understanding the relationship between colour coordinates of the skin and the quantities of haemoglobin and melanin, and may be of use when pigmented lesions of the face are monitored by tristimulus colourimetry, as facial skin colour is affected considerably by the rich and easily variable cutaneous blood flow.

Adult↗
PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗
PubMed1992

Oral-dental findings in dyskeratosis congenita.

A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia, growth retardation, alopecia, mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.

Adolescent↗
PubMedDate not supplied

Sneddon's syndrome: a cause of cognitive decline in young adults.

OBJECTIVE: To review the clinical, psychometric, laboratory, and radiologic findings of 6 patients with Sneddon's syndrome (SS) who presented with cognitive dysfunction rather than stroke. DESIGN AND METHODS: Case series. All patients fulfilled were diagnosed as SS based on the co-occurrence of livedo racemosa and neurologic disease. Patients presenting with clinical stroke were excluded. RESULTS: Patients presented with cognitive complaints at an early age and all noted skin lesions from 6 months to 10 years before onset of cognitive symptoms. Associated systemic disorders included hypertension and seizures. Laboratory evidence of a hypercoagulable condition was identified in 4 of 6 cases. Brain MRI scans demonstrated atrophy, especially in parieto-occipital regions and cerebral blood flow on brain SPECT scan was reduced in a similar distribution. CONCLUSION: Patients with SS can develop dementia without antecedent clinical stroke. While the specific pathogenic mechanism of dementia in SS remains speculative, the disease predominantly injures brain tissue in vascular "watershed" territories.

Adult↗
PubMed1975

[The Goltz-Gorlin syndrome. Review and case reports].

A case of Goltz-Gorlin-Syndrom (GGS) is reported with ectodermal and mesodermal defects. Differential diagnoses were: congenital poikilodermias, naevus lipomatodes cutaneous superficialis (Hoffmann-Zurhelle) and incontinentia pigmenti. Clinical aspects, histopathology, pathogenesis, genetics, and chromosomal patterns are compiled and the cases reviewed which were reported until 1974.

Abnormalities, Multiple↗