Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via "Network Therapy of Rare Epilepsies (NETRE)" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.

The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X-linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10-28) and carrier females was 3.4 (range: 0-22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.

Endoscopic Browlift in the Receding Hairline Patient.

UNLABELLED: The upper third of the face, composed of the forehead and the brow, is a critical aesthetic subunit. Brow ptosis is a common presenting complaint for patients seeking elective improvement of their facial appearance. Browlift surgery has a long history of technique evolution, with various reported methods and refinements. Since the introduction of the endoscopic brow lifting in the 1990s, it has become widely accepted as an approach to forehead rejuvenation. Endoscopy provides minimal incisions in well hidden areas, avoiding long, visible scars. A great number of patients who seek forehead rejuvenation already have a receding hairline. The patient with a receding hairline has been viewed as an unfavorable candidate for the endoscopic browlift approach. This report describes the case of a 67-year-old man with a receding hairline that was referred for brow ptosis and upper eyelid dermatochalasis. An upper eyelid blepharoplasty and an endoscopic browlift were performed. Incisions were placed in the temporal region bilaterally, as well as a single central incision placed in the anterior hairline. Two small horizontal incisions were placed in forehead crease lines for placement of the anchoring pins. This technique allowed for ease of dissection and resulted in inconspicuous scars. There was no elevation of the hairline; the brow was examined to be at a normal position at the level of the supraorbital rim at 12 months postoperative. The patient was highly satisfied with the operative outcome. LEVEL OF EVIDENCE: V.

[Not Available]. / Síndrome de Graham-Little-Piccardi-Lassueur: variante disseminada de líquen plano folicular.

Graham-Little-Piccardi-Lassueur syndrome is a rare lichenoid dermatosis. It is characterized by the triad of scarring alopecia of the scalp, alopecia of the axilla and or groin, and keratotic follicular papules of the body. The present paper reports on two cases affecting young women. Histopathological findings suggest the disorder represents a generalized form of lichen planus follicularis.

Hair loss in pityriasis versicolor lesions: a descriptive clinicopathological study.

BACKGROUND: We have observed that hair thinning and/or loss occur at times as a presenting symptom or sign in patients with pityriasis versicolor (PV). OBJECTIVE: Our objective was to verify and explore this clinical observation and depict its underlying pathology. METHODS: A total of 39 patients with PV were examined during a period of 11 months and skin biopsy specimens were taken from lesional and nonlesional skin. Hematoxylin-eosin- and periodic acid-Schiff-stained sections were examined and described. Results were statistically analyzed. RESULTS: Hair loss and/or thinning within PV lesions was shown in 61.5% of patients (P value < .0005), appearing most commonly on forearms, abdomen, and neck as well as the beard area (only in male participants). Histopathologically, in addition to the classically described features of PV, basal hydropic degeneration, follicular degeneration, miniaturization, atrophy, plugging, and/or hair shaft absence occurred in 46% of lesional versus 20.5% of nonlesional biopsy specimens (P value < .05); these changes appeared to be directly or indirectly related to the presence of Malassezia organisms in hair follicles and/or stratum corneum. LIMITATIONS: Some patients with PV lesions on the face did not approve facial biopsy. CONCLUSION: This study provides clinical and histopathological evidence that PV lesions may be associated with hair thinning and/or loss.

Pili annulati: a report of 2 American families.

Pili annulati (PA) is a rare, benign, autosomal-dominant or sporadic hair shaft disorder characterized by scalp hair with a banded or speckled appearance. We present 2 American families with PA and highlight the characteristic clinical and microscopic features. Among the 2 families, a total of 11 individuals with PA were identified, spanning 3 generations in family 1 and 4 generations in family 2.

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.

Congenital hypotrichosis associated with juvenile macular dystrophy (HJMD; MIM601553) is an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding progressive macular degeneration and early blindness. We used homozygosity mapping in four consanguineous families to localize the gene defective in HJMD to 16q22.1. This region contains CDH3, encoding P-cadherin, which is expressed in the retinal pigment epithelium and hair follicles. Mutation analysis shows in all families a common homozygous deletion in exon 8 of CDH3. These results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder.

Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report.

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.

Multiple familial and pigmented basal cell carcinomas in early childhood - Bazex-Dupré-Christol syndrome.

BACKGROUND: Bazex-Dupré-Christol syndrome (BDCS) is an X-linked dominantly inherited disorder affecting hair follicle structures. Currently, hypotrichosis, follicular atrophoderma and basal cell carcinomas are considered frequent symptoms of the disorder whereas milia are supposed to reflect infrequent clinical signs. Usually, basal cell carcinomas in this disease manifest from the second decade of life onwards. CASE REPORT: Here, we studied a novel multigeneration family of German origin with BDCS. Interestingly, two family members developed pigmented basal cell carcinomas in early childhood, at the age of 3 and 5 years, respectively. The differentiation from other pigmented lesions was accomplished by both dermoscopy and histopathology. A thorough survey of the current literature revealed that milia were present in almost all patients with BDCS reported, as is the case in our family. CONCLUSIONS: We suggest that milia should also be considered frequent symptoms in BDCS. For the first time, to the best of our knowledge, we describe the occurrence of pigmented basal cell carcinomas in BDCS during the first decade of life. Our observation emphasizes the importance of screening for cutaneous malignancies in this disorder already at young age.

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.

BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse hair on the scalp and early blindness. Mutations in the CDH3 gene have been reported to underlie HJMD. AIM: To identify a gene responsible for HJMD in a large, four-generation Pakistani family. METHODS: Genotyping of 13 members of the family, including 6 affected and 7 unaffected members, was carried out using polymorphic microsatellite markers closely linked to the CDH3 on chromosome 16q22.1. To screen for mutations in the CDH3 gene, all of its exons and splice junctions were amplified using PCR from genomic DNA and sequenced directly, using an automated DNA sequencer. RESULTS: Microsatellite analysis showed linkage of the family to the CDH3 gene on chromosome 16q22.1. Sequence analysis of the CDH3 gene revealed a novel splice-site mutation (IVS10-1 G-->T), leading to probable skipping of exon 11 and a shift in the reading frame. CONCLUSION: The mutation identified here represents the first mutation in the CDH3 gene causing HJMD in a Pakistani population.

Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.

Here, we report the diagnostic challenge of a female patient of Russian descent with autosomal recessive hypotrichosis with juvenile macular dystrophy (HJMD). She presented to dermatology age one and a half years with sparse hair growth on her scalp, her parents were reassured this would grow, but it never manifested. She was found to be hypermetropic and prescribed glasses from age 2 but no retinal findings were noted. At age 23 years, the patient undertook an internet search and discovered the association of symptoms pointing towards HJMD. She sought genetic testing, revealing a homozygous missense mutation in Cadherin-3 (CDH3) gene. The patient presented to our Genetic Eye Disease Service at Moorfields Eye Hospital age 27 years, with reduced colour, central distance and near vision. Fundus examination and imaging confirmed atrophic macular changes. Currently, HJMD has no treatment, she wears a wig, UV-protected sunglasses in sunlight and maintains a healthy balanced diet.

Synchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer.

A 69-year-old man developed bilateral polyarthritis, edematous extremities, and skin desquamation on the fingers and ears. He did not meet the criteria for any connective tissue disease, including rheumatoid arthritis. An examination revealed advanced lung cancer. His systemic manifestations were attributed to paraneoplastic Bazex syndrome and remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Treatment with pembrolizumab (an anti-programmed death-1 antibody) for lung cancer relieved his symptoms and shrank the lung tumor. Bazex and RS3PE syndromes are rare paraneoplastic diseases. We herein report this unique case of synchronous development of these two paraneoplastic syndromes in the presence of advanced lung cancer.

Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects.

Bazex-Dupré-Christol syndrome is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis; yet it may be accompanied by milia, ichthyosis, neurological symptoms, and visceral malignancies. Symptom onset is nonsimultaneous, and hence the diagnosis is often made late and the opportunity of counseling and following up is missed. This article aims toward providing a comprehensive review of the clinical perspective of Bazex-Dupré-Christol syndrome, highlighting the major clinical variants to facilitate reaching a prompt diagnosis. In addition, the molecular aspects are discussed. Though the gene responsible for this syndrome is yet nonspecified, it is confirmed to be localized to the long arm of chromosome X.

Long-term dental management of a patient with features of Schöpf-Schulz-Passarge syndrome.

Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described.