ABSTRACT
INTRODUCTION: Non-scarring alopecia mainly includes androgenetic alopecia (AGA), female pattern hair loss (FPHL), alopecia areata (AA), telogen effluvium (TE), anagen effluvium (AE) and so on. Many studies had investigated the serum 25-hydroxyvitamin D level and vitamin D deficiency of patients with these diseases, but opinions varied, and no conclusion was reached. METHODS: Relevant articles were retrieved through PubMed, Web of Science, EMBASE, Cochrane Library, China National Knowledge Infrastructure (CNKI) and other databases. Serum 25-hydroxyvitamin D [25(OH) D] levels and vitamin D deficiency were used as our primary outcome. The odds ratio (OR) and the standardized mean difference (SMD) with 95% confidence interval were both examined for vitamin D deficiency and levels. RESULTS: Our meta-analysis had included a total of 3374 non-scarring alopecia patients and 7296 healthy controls from 23 studies through the inclusion criteria and exclusion criteria. We found non-scarring alopecia had decreased serum 25(OH)D level (WMD -7.29; 95% CI -9.21, -5.38) and increased vitamin D deficiency incidence (OR 3.11 95% CI 2.29, 4.22), compared with healthy controls. This meta-analysis chose to conduct random-effect model and subgroup analysis, because of the high heterogeneity (serum 25(OH)D level: I2 = 95%, vitamin D deficiency: I2 = 0%). CONCLUSION: Patients with non-scarring alopecia (including AA, FPHL, AGA and TE) have insufficient serum level of 25(OH)D and increased incidence of vitamin D deficiency. Vitamin D supplementation and monitoring for vitamin D deficiency may be helpful in treating non-scarring alopecia.
Subject(s)
Alopecia Areata , Vitamin D Deficiency , Vitamin D/analogs & derivatives , Humans , Female , Alopecia/etiology , Alopecia/complications , Vitamin D Deficiency/complications , Vitamin D Deficiency/epidemiology , CalcifediolABSTRACT
INTRODUCTION: Cronkhite-Canada syndrome (CCS) is currently considered to be a non-hereditary disease, which is relatively rare clinically. It is also known as polyposis hyperpigmentation alopecia nail dystrophy syndrome, it is a syndrome characterized by gastrointestinal polyposis and ectodermal changes, the main manifestations are gastrointestinal symptoms, skin pigmentation, alopecia, and hypothyroidism. CASE PRESENTATION: In this paper, the clinical characteristics, diagnosis and treatment of a case of CCS admitted to Huanghe Sanmenxia Hospital were analyzed. In the course of treatment, traditional Chinese medicine was used, but no hormone, and the patient's clinical symptoms were greatly relieved. CONCLUSIONS: CCS is rare, there is no specific treatment, and traditional Chinese medicine may can greatly relieve the clinical symptoms of patients. However, it's still having to be verified by a large sample, multi-center, long-term treatment follow-up studies.
Subject(s)
Hyperpigmentation , Intestinal Polyposis , Nail Diseases , Humans , Intestinal Polyposis/complications , Intestinal Polyposis/diagnosis , Alopecia/therapy , Alopecia/complications , Hyperpigmentation/etiology , Hyperpigmentation/therapy , Nail Diseases/diagnosis , Nail Diseases/etiologyABSTRACT
Alopecia in hereditary vitamin D resistant rickets (HVDRR) has some correlation with severe rickets and poor overall response. However, these observations are based on small series. Hence, we aim to assess the genotypic spectrum of HVDRR and its correlation with alopecia and clinical response. Seven genetically-proven HVDDR patients from five unrelated families and 119 probands from systematic review were analysed retrospectively for phenotypic and genotypic data and overall response to therapy. In our cohort mean age at rickets onset was 12 (± 3.4) months. Alopecia was present in all patients but one. All patients had poor overall response to oral high-dose calcium and calcitriol and most required intravenous calcium. Genetic analyses revealed four novel variants. On systematic review, alopecia was present in majority (81.5%) and preceded the onset of rickets. Patients with alopecia had higher serum calcium (7.6 vs.6.9 mg/dl, p = 0.008), lower 1, 25(OH)2 D (200 vs.320 pg/ml, p = 0.03) and similar overall response to oral therapy (28.7% vs. 35.3%, p = 0.56). Alopecia was present in 51.4% of non-truncating (NT) ligand-binding domain (LBD) variants, whereas it was universal in truncating LBD and all DNA binding-domain (DBD) variants. Overall response to oral therapy was highest in LBD-NT (46.4%) as compared to 7.6% in LBD-truncating and 19% in DBD-NT variants. Among LBD-NT variants, those affecting RXR heterodimerization, but not those affecting ligand affinity, were associated with alopecia. Both alopecia and overall response have genotypic correlation. Age at diagnosis and overall response to oral therapy were similar between patients with and without alopecia in genetically proven HVDRR.
Subject(s)
Familial Hypophosphatemic Rickets , Humans , Infant , Familial Hypophosphatemic Rickets/drug therapy , Familial Hypophosphatemic Rickets/genetics , Familial Hypophosphatemic Rickets/complications , Receptors, Calcitriol/genetics , Calcium , Ligands , Retrospective Studies , Alopecia/genetics , Alopecia/complications , Alopecia/drug therapy , Mutation , Vitamin D/therapeutic useABSTRACT
INTRODUCTION: Androgenetic alopecia is the most common cause of hair loss in both males and females. In a society that places significant value on hair and associates it with attractiveness, a lack there of can have damaging psychological consequences. The psychosocial impact of hair loss is often overlooked due to the medically benign nature of offending conditions. Addressing the psychological aspects of androgenetic alopecia can improve holistic patient care and patient outcomes. METHODS: A search was conducted in PubMed using the following search strategy: androgenetic alopecia AND anxiety OR depression OR psychological OR psychosocial OR self-esteem. Studies were excluded if they focused on any other type of alopecia or were published in a language other than English. RESULTS: A total of 13 studies were retained after the initial search process. The included studies date from 1992 to 2021. They all conclude that androgenetic alopecia serves as a significant psychosocial stressor in the lives of those affected. It impairs quality of life according to multiple measures. CONCLUSION: The data examined from these studies shed light on the increased need to attend to the psychosocial comorbidity associated with androgenetic alopecia. These hair-loss patients often present to dermatology clinics to seek treatment but would also benefit from psychological support.
Subject(s)
Alopecia , Quality of Life , Male , Female , Humans , Quality of Life/psychology , Alopecia/complications , Hair , Self Concept , Anxiety/etiology , Anxiety/psychologyABSTRACT
BACKGROUND: Abnormal uterine bleeding (AUB), alopecia, low quality of life, and acne are considered as complications of polycystic ovary syndrome (PCOS). We hypothesized that magnesium supplementation would yield beneficial effects on PCOS related complications. OBJECTIVE: To examine the effects of magnesium supplementation on AUB, alopecia, quality of life, and acne. METHODS: In this parallel randomized clinical trial, we randomly assigned 64 women with PCOS to the magnesium group (n = 32) or placebo group (n = 32) for 10 weeks. AUB, alopecia, quality of life, and acne were assessed by the International Federation of Gynecology and Obstetrics criterion, the Sinclair Scale, the Health Survey Quality of Life Questionnaire, and the Global Acne Grading System, respectively. This randomized clinical trial was registered at IRCT.ir (IRCT20130903014551N9). RESULTS: Magnesium supplementation significantly improved the components of quality of life including physical functioning (p = 0.011), role limitations due to physical health (p = 0.012), role limitations due to emotional problems (p < 0.001), energy/fatigue (p = 0.005), emotional wellbeing (p < 0.001), social functioning (p = 0.002), general health (p = 0.013), and total quality of life (p < 0.001), compared with placebo. No significant effect was observed on acne, alopecia, and AUB. CONCLUSION: Magnesium supplementation in women with PCOS had a significant positive effect on improving total quality of life. TRIAL REGISTRATION: This randomized clinical trial was registered at IRCT.ir on 2020-10-18 (Registration Code: IRCT20130903014551N9 ).
Subject(s)
Acne Vulgaris , Polycystic Ovary Syndrome , Acne Vulgaris/complications , Acne Vulgaris/drug therapy , Alopecia/complications , Alopecia/drug therapy , Biomarkers , Dietary Supplements , Female , Humans , Magnesium/pharmacology , Magnesium/therapeutic use , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/drug therapy , Pregnancy , Quality of Life , Uterine Hemorrhage/complicationsABSTRACT
We investigated a subtype of Telogen Effluvium associated with Dysesthesia, (TED) which was defined as the presence of Telogen Effluvium with severe itch, pain, soreness, burning, or formication in the absence of any inflammatory scalp disorder or medication associated with Telogen Effluvium or Dysesthesia. These are patients who present with a "burning" scalp or other dysesthesia associated with increased telogen hair shedding. Telogen Effluvium is not typically associated with any scalp symptoms.3 Other scalp dysesthesia studies have mentioned occasional patients in their study that were also diagnosed with Telogen Effluvium,1,2 but the clinical association of Scalp Dysesthesia and Telogen Effluvium has never been made as a distinct entity.
Subject(s)
Alopecia/diagnosis , Dietary Supplements , Hair Follicle/pathology , Paresthesia/diagnosis , Vitamin B 12/administration & dosage , Alopecia/blood , Alopecia/complications , Alopecia/drug therapy , Case-Control Studies , Female , Follow-Up Studies , Humans , Male , Middle Aged , Paresthesia/blood , Paresthesia/drug therapy , Paresthesia/etiology , Prospective Studies , Retrospective Studies , Scalp , Treatment Outcome , Vitamin B 12/bloodABSTRACT
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c.200-201delTT). The patient presented with the characteristic symptoms of the syndrome and a favorable progression with normalization of hepatic analyses under symptomatic treatment (vitamin supplementation and ursodeoxycholic acid). The currently limited availability of clinical and therapeutic data does not allow accurate prediction of the course of the disease and short- and long-term prognosis. Moreover, substantial interindividual variability has been reported. Description of new cases will provide new insights into the understanding and the overall management of this syndrome, the course of which remains elusive.
Subject(s)
Alopecia/complications , Cholangitis, Sclerosing/complications , Cholestasis/etiology , Claudin-1/deficiency , Ichthyosis/complications , Leukocyte Disorders/complications , Alopecia/genetics , Cholangitis, Sclerosing/genetics , Claudin-1/genetics , Humans , Ichthyosis/genetics , Infant, Newborn , Leukocyte Disorders/genetics , Male , PedigreeABSTRACT
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)2D3. PATIENTs with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported. PATIENT: The patient was a 3-year-old boy presenting with waddling gait and alopecia. He had hypocalcemia [8 mg/dl (2 mmol/l)], hyperparathyroidism (1,232 ng/l), and elevated 1,25-(OH)2D3 levels (>250 pmol/l). DNA sequence analyses of the VDR gene showed a homozygous C-T transition at codon 152, resulting in a non-sense mutation in exon 5. INTERVENTIONS AND OUTCOMES: The patient was initially treated with calcitriol (80 ng/kg/day) and high-dose oral calcium (150 mg/kg/day) for one year. At the end of the first year, intermittent (5 days per month) i.v. calcium therapy without a central catheter was initiated because of insufficient clinical and radiological improvement. After 2 years of intermittent i.v. calcium therapy, there was a clear improvement based on clinical progress and on X-ray and biochemical findings. No peripheral complications were reported either. CONCLUSION: HVDRR with a non-sense mutation in the ligand-binding domain and alopecia was successfully treated with intermittent i.v. calcium without a central catheter.
Subject(s)
Alopecia/drug therapy , Calcium/therapeutic use , Familial Hypophosphatemic Rickets/drug therapy , Administration, Intravenous , Alopecia/complications , Alopecia/genetics , Calcium/administration & dosage , Child, Preschool , Drug Administration Schedule , Familial Hypophosphatemic Rickets/complications , Familial Hypophosphatemic Rickets/genetics , Humans , Male , Mutation , Receptors, Calcitriol/genetics , Treatment OutcomeABSTRACT
Satisfactory, evidence-based medicine regimen for treating alopecia are available in literature only regarding alopecia areata and androgenetic alopecia. About all the other kinds of alopecia, recommendations for therapy are still based upon the literature review, expert opinion, personal experience, expected adverse effects, and some pragmatic considerations such as the cost and the patient's compliance. Cicatricial alopecia is one of the most difficult challenges for dermatologists, because it is uncommon, its etiopathogenesis is not completely understood and there is no best therapy approach. Moreover, in Italy, most of the drugs mentioned below are not always available. Finally, therapies for hair disorders are long treatment and not always lead to a good improvement.
Subject(s)
Alopecia/therapy , 5-alpha Reductase Inhibitors/therapeutic use , Adrenal Cortex Hormones/therapeutic use , Alopecia/complications , Alopecia/drug therapy , Alopecia/surgery , Androgen Antagonists/therapeutic use , Anti-Infective Agents/therapeutic use , Cicatrix/etiology , Cicatrix/surgery , Dermatologic Agents/therapeutic use , Disease Progression , Drug Therapy, Combination , Female , Hair Follicle/transplantation , Humans , Immunosuppressive Agents/therapeutic use , Male , Minoxidil/therapeutic use , PhytotherapyABSTRACT
Data on coexisting Graves' disease (GD), hypoparathyroidism, and systemic lupus erythematosus (SLE) are limited. The thyroid and parathyroid glands may be extra sensitive to irradiation damage in an underlying autoimmune condition. A 34-year-old black woman presented with tetanic-like cramps, easy skin bruising, fatigue, weight gain, nocturia and back pain. She was previously diagnosed with GD in 2001 and underwent radioiodine therapy (RAI) in 9/01 using 6 mCi. PostRAI (November 2001) she developed hypocalcemia and hypothyroidism (2/02). In 2007, SLE was diagnosed. In October 2009, s-calcium and PTH were still low at 7.1 mg/dl and 9 pg/mL, respectively, although the patient denied symptoms on vitamin D and calcium supplementation. To identify possible autoimmune damage of the parathyroids, we evaluated the presence of activating antibodies to the CaSR and also analyzed the DNA sequence of all 6 translated exons and flanking intronic sequences of her CaSR gene for a functionally significant CaSR mutation but neither was positive. The initial autoimmune damage to her thyroid and possibly parathyroid glands followed by irradiation of them seems to have contributed to her developing both hypoparathyroidism (11/01) and hypothyroidism (2002). The patient could potentially have had parathyroid autoantibodies in 2001 that disappeared by 2009 when she was tested for them. We consider that the multiple autoimmune conditions developed over the past decade of her life with the concurrent irradiation contributing to her brittle hypoparathyroidism. Select patients with GD and perhaps parathyroid autoantibodies with a slowly developing destructive impact on the parathyroid glands may then develop overt hyoparathyroidism with rather low dose RAI ablation. This patient adds to the evolving spectrum of polyglandular syndrome variants.
Subject(s)
Polyendocrinopathies, Autoimmune/diagnosis , Adult , Alopecia/complications , Angioedema/complications , Female , Graves Disease/complications , Humans , Hypoparathyroidism/complications , Lupus Erythematosus, Systemic/complicationsABSTRACT
Cronkhite-Canada syndrome (CCS) is a rare nonfamilial syndrome characterized by marked epithelial disturbances in the GI tract and epidermis. Cronkhite and Canada described the first 2 cases in 1955. Since then only about 450 cases have been reported worldwide. Here we report a 33 year old Indian male admitted with history of loose stools and abdominal pain, loose stools associated with weight loss, generalized weakness, significant amount of hair loss as well as hyperpigmentation of his palms and soles. On subsequent days of the stay in the hospital he developed hypogeusia and showed onychodystrophy. Endoscopy of Upper GI and Lower GI tract revealed severe gastroduodenitis with polyp in duodenum and multiple polyps whole throughout the colon respectively. Biopsy report showed eosinophilic gastritis and hamartomatous polyps in colon as well as in duodenum. He was started on high protein supplement, proton pump inhibitors and zinc-vitamin supplement and he showed a complete recovery in symptoms within 5 months of initiation of treatment. Hence, early diagnosis and initiation of appropriate treatment helped the patient to improve in symptoms from such a rare disease.
Subject(s)
Dietary Supplements , Intestinal Polyposis/therapy , Adult , Alopecia/complications , Dietary Proteins/administration & dosage , Humans , Hyperpigmentation/complications , Intestinal Polyposis/complications , Intestinal Polyposis/diagnosis , Male , Proton Pump Inhibitors/therapeutic use , Vitamins/therapeutic use , Zinc/therapeutic useSubject(s)
Alopecia/pathology , Hypohidrosis/pathology , Skin/pathology , Alopecia/complications , Alopecia/drug therapy , Child , Dermatologic Agents/therapeutic use , Humans , Hyperplasia/pathology , Hypohidrosis/complications , Hypohidrosis/drug therapy , India , Male , Mometasone Furoate , PUVA Therapy , Pregnadienediols/therapeutic useABSTRACT
A 4-year-old boy presented with rickets, alopecia and macrocephaly along with elevated serum levels of 1,25(OH)2D3 which was diagnostic of vitamin D-dependent rickets type II. The rickets responded to conventional doses of 1α-hydroxycholecalciferol together with oral calcium supplement and there was also improvement in the alopecia. In patients with vitamin D-dependent rickets type II with alopecia, although rickets improves with treatment, improvement in alopecia has not been reported before.
Subject(s)
Alopecia/complications , Alopecia/drug therapy , Familial Hypophosphatemic Rickets/complications , Familial Hypophosphatemic Rickets/drug therapy , Hydroxycholecalciferols/therapeutic use , Calcium/administration & dosage , Calcium/therapeutic use , Child, Preschool , Familial Hypophosphatemic Rickets/diagnostic imaging , Humans , Hydroxycholecalciferols/administration & dosage , Male , Megalencephaly/complications , Megalencephaly/drug therapy , Radiography , Treatment Outcome , Vitamin D/metabolismABSTRACT
The relationship between nonscarring scalp alopecia in women and iron deficiency continues to be a subject of debate. We review the literature regarding the relationship between iron deficiency and nonscarring scalp alopecia and describe iron-dependent genes in the hair follicle bulge region that may be affected by iron deficiency. We conclude with a description of our approach to the diagnosis and treatment of nonscarring alopecia in women with low iron stores. Limitations include published studies with small numbers of patients, different study designs, and absence of randomized, controlled treatment protocols. Additional research regarding the potential role of iron during the normal hair cycle is needed, as is a well-designed clinical trial evaluating the effect of iron supplementation in iron-deficient women with nonscarring alopecia.
Subject(s)
Alopecia/complications , Alopecia/pathology , Anemia, Iron-Deficiency/complications , Scalp/pathology , Alopecia/genetics , Anemia, Iron-Deficiency/genetics , Anemia, Iron-Deficiency/metabolism , Animals , Cicatrix , Female , Humans , Iron/metabolismABSTRACT
Iron is involved in many critical physiologic processes within the hair follicle, suggesting that iron deficiency could disrupt hair synthesis. However, studies of iron as a cause of hair loss have produced conflicting results. Some of the discrepancies may relate to limitations of assays for iron deficiency. This commentary discusses the sensitivity and specificity of available tests for iron deficiency and presents practical guidelines for testing and supplementation.
Subject(s)
Alopecia/complications , Alopecia/metabolism , Anemia, Iron-Deficiency , Chemistry, Clinical/standards , Iron/blood , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/diagnosis , Anemia, Iron-Deficiency/metabolism , Antigens, CD/blood , Hemoglobins/metabolism , Humans , Receptors, Transferrin/blood , Sensitivity and SpecificityABSTRACT
The relationship between iron body status and different types of hair loss has been investigated in a number of studies, however, with relatively discrepant findings. Therefore we conducted an analytical case-control study to assess whether diffuse telogen hair loss in women of childbearing age (15 to 45 years old) is associated with iron deficiency. Using the analytical case-control methodology, we studied 30 consecutive women with documented diffuse telogen hair loss in comparison with 30 women without hair loss. Study subjects had no history of nutritional supplement intake or chronic underlying diseases, and had normal thyroid function and inflammatory profiles. Biochemical investigations were performed in all study women. The mean ferritin level and trasferrin saturation was statistically significantly lower in patients with diffuse telogen hair loss than in subjects without hair loss (16.3+/-12.6 vs. 60.3+/-50.1, ng/mL; P<0.0001 and 20.3+/-9.7 vs. 28.3+/-11.8 percent; P=0.006, respectively). Also, total iron binding capacity was significantly higher in patients than in control group (367.8+/-58.2 vs. 319.2+/-60.1 microg/dL; P=0.004). Of nine patients with iron deficiency anemia (Hb <12 g/dL), eight patients had telogen hair loss (odds ratio: 10.5, 95%CI: 1.2-90.7; P=0.013). Odds ratio (95% confidence interval) for diffuse telogen hair loss was 21.0 (4.2-105.0) at serum ferritin levels < or =30 ng/mL. Women with iron deficiency status are at a risk of telogen hair loss. The important role of serum ferritin in hair loss is becoming more evident. In women without systemic inflammation or other underlying disorders, serum ferritin levels below or equal to 30 ng/mL are strongly associated with telogen hair loss.
Subject(s)
Alopecia/blood , Alopecia/complications , Anemia, Iron-Deficiency/epidemiology , Adolescent , Adult , Alopecia/diagnosis , Anemia, Iron-Deficiency/diagnosis , Case-Control Studies , Cohort Studies , Female , Ferritins/blood , Humans , Prevalence , Young AdultABSTRACT
Exfoliative erythema of malnutrition is a collective term for skin lesions caused by a combination of multiple deficiencies in vitamins, microelements, essential fatty acids and amino acids. We report a 3-year-old Iraqi girl with malnutrition due to coexisting coeliac and Hartnup's disease. On admission to hospital, she presented with kwashiorkor, anaemia, hepatitis and hypoalbuminia. She had severe skin changes with erythema, desquamation, erosions and diffuse hyperpigmentation involving the whole integument, particularly the perioral area, trunk and legs. She also had angular cheilitis, glossitis, conjunctivitis and diffuse alopecia. After treatment with a high-protein gluten-free diet and supplementation with vitamins and microelements there was a rapid improvement in the skin lesions. The severity of the skin lesions in this case can be explained by the coexistence of two metabolic diseases causing complex malnutrition.
Subject(s)
Celiac Disease , Child Nutrition Disorders , Erythema , Glutens/adverse effects , Hartnup Disease , Alopecia/complications , Celiac Disease/complications , Celiac Disease/diet therapy , Celiac Disease/pathology , Child Nutrition Disorders/complications , Child Nutrition Disorders/diet therapy , Child, Preschool , Diet, Gluten-Free , Erythema/diet therapy , Erythema/etiology , Erythema/pathology , Female , Glossitis/complications , Hartnup Disease/complications , Hartnup Disease/diet therapy , Hartnup Disease/pathology , Humans , Parents/education , Skin/pathology , Treatment Outcome , Vitamins/administration & dosageABSTRACT
Acrodermatitis enteropathica (AE) is a rare autosomal recessive pediatric disease characterized by dermatitis, diarrhea, alopecia, and growth failure. The disease results from insufficient uptake of zinc by the intestine and can be fatal unless the diet is supplemented with zinc. To map the gene responsible for AE, a genomewide screen was performed on 17 individuals, including 4 affected individuals, in a consanguineous Jordanian family. Three markers-D8S373, D10S212, and D6S1021-had a pattern consistent with tight linkage to a recessive disease: one allele in the affected sibs and multiple alleles in unaffected sibs and parents. Two-point parametric linkage analysis using FASTLINK identified one region, D8S373, with a maximum LOD score >1.5 (1.94 at D8S373: recombination fraction.001). Twelve additional markers flanking D8S373 were used to genotype the extended family, to fine-map the AE gene. All five affected individuals-including one who was not genotyped in the genomewide screen-were found to be homozygous for a common haplotype, spanning approximately 3.5 cM, defined by markers D8S1713 and D8S2334 on chromosomal region 8q24.3. To support these mapping data, seven consanguineous Egyptian families with eight patients with AE were genotyped using these markers, and six patients from five families were found to be homozygous in this region. Multipoint analysis with all consanguineous families, by Mapmaker/Homoz, resulted in a maximum LOD score of 3.89 between D8S1713 and D8S373. Sliding three-point analysis resulted in a maximum LOD score of 5.16 between markers D8S1727 and D8S1744.
Subject(s)
Acrodermatitis/genetics , Chromosomes, Human, Pair 8/genetics , Homozygote , Acrodermatitis/complications , Acrodermatitis/pathology , Alleles , Alopecia/complications , Alopecia/genetics , Alopecia/pathology , Child, Preschool , Chromosome Mapping , Consanguinity , Diarrhea/complications , Diarrhea/genetics , Egypt , Female , Genes, Recessive/genetics , Growth Disorders/complications , Growth Disorders/genetics , Haplotypes , Humans , Jordan , Lod Score , Male , Microsatellite Repeats/genetics , Nuclear Family , Pedigree , Software , Zinc/deficiency , Zinc/metabolismABSTRACT
We obtained a successful response to PUVA therapy in a 51-year-old Japanese man who had multiple nodules of the trunk, extremities and scalp along with polyclonal hypergammaglobulinaemia; the scalp lesions were associated with extensive alopecia. Examination of skin biopsies showed a dense infiltrate of mature plasma cells in the dermis and hair follicles; no systemic disease or functional involvement of other organs was detected. The clinical and histological findings were compatible with cutaneous plasmacytosis and treatment with topical PUVA gradually reduced the size and number of the lesions.