Familial Bullous Lichen Planus (FBLP): Pedigree Analysis and Clinical Characteristics
Bibliographic record
Abstract
Familial bullous lichen planus (FBLP) is a rare condition. The clinical features dearly have been described. We report the largest patient series of FBLP and describe its clinical characteristics and inheritance pattern. In this retrospective chart review, we analyzed nine consecutive familial pedigrees of FBLP with 36 affected individuals who presented to the Department of Dermatology at the Wuhan Union Hospital, a tertiary referral hospital in central China. Parameters analyzed include age of onset, gender predilection, lesional distribution, nail and mucosal involvement, clinical course, and inheritance pattern. Thirty-six of 85 individuals in the nine families were affected (42.4%). Females were more likely to be affected than males (58.3% vs 35.7%, Ġ(χ 2 = 3.99. P < 0.05). A bimodal disease onset was found, with one peak at 1–3 years and another at 13–17 years. The shin is the most commonly affected area (97%) followed by the upper limbs and the thighs. Involvement of the torso is relatively rare. Only a minority of cases involves the oral mucosa. The disease tends to follow a chronic and progressive course. The inheritance pattern is autosomal dominant with variable penetrance. Familial bullous lichen planus is a chronic, progressive bullous eruption of the lower and upper extremities. Compared with non familial bullous lichen planus, it has an earlier onset and wider disease distribution. It may be inherited as an autosomal dominant condition with variable penetrance. Le lichen plan bulleux familial (LPBF) est une condition rare. Les descriptions de ses manifestations cliniques sont limitées. Nous faisons état de la plus importante série de LPFB, et décrivons ses caractéristiques cliniques ainsi que ses schémas de transmission. Dans cette étude rétrospective, nous analysons neuf lignées familiales de LPFB auprès de 36 personnes atteintes qui se sont présentées au service de dermatologie de 1’hôpital Wuhan, un hôpital de recommandation tertiaire dans le centre de la Chine. Les paramèters analysés comprennent: 1’âge au déclenchement, le sexe, la distribution des lésions, l’atteinte des ongles et des muqueuses, 1’évolution clinique et les schémas de transmission. Trente six des 85 personnes appartenant aux neuf families étaient affectées, soit 42,4%. La condition touchait les femmes davantage que les homines (58,3% et 35,7% respectivement. χ 2 = 3,99, P < 0,05). On a remarqué un déclenchement bimodal de la maladie, avec un point culminant après 1 à 3 ans et un autre après 13 à 17 ans. Le tibia est la zone la plus fréquemment affectée (97%), suivie des membres supérieurs et des cuisses. L’affection du torse est plutôt rare. Une minorité de cas concernent la muqueuse buccale. La maladie est chronique et progressive. Elle se transmet en mode dominant avec une pénétrance variable. Le lichen plan bulleux familial est une éruption bulleuse chronique et progressive des extrémités inférieures et supérieures. L’âge au déclenchement est moins avancé que celui du lichen plan bulleux non familial; et sa distribution est plus étendue. Son mode de transmission est autosomique dominant avec pénétrance variable.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".