TaoMedAI/RareMedData huggingface dataset:
Linear lichen planus (ORPHA:254379)
Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.
Epidemiology
The prevalence is unknown. Less than 0.5% of patients with LP present with Blaschkoid LP. Cases have been more commonly reported in children, however LLP does occur in adults.
Clinical description
Lesions appear as pruritic, violaceous papules in a linear distribution, usually on the limbs, but also anywhere on the body. It follows a Blaschkoid, not dermatomal, pattern of distribution. It can be superimposed on the more typical non-segmental and randomly-distributed lesions of classic LP. Histology is that of classical papulosquamous lichen planus. A very rare LLP variant, called zosteriform LP, has also been observed and is characterized by a segmental zosteriform distribution of lichenoid lesions. Zosteriform LP may appear as a Koebner phenomenon following herpes zoster infection.
Etiology
Etiology of LLP is unknown, however it has been associated with metastatic carcinoma, HIV infection and hepatitis C infection. It is thought that LLP arises due to an abnormal keratinocyte clone that is only unmasked after the initiating event for lichen planus.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Linear verrucous nevus syndrome (ORPHA:2611)
A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.
LIPE-related familial partial lipodystrophy (ORPHA:435660)
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.
Lipoblastoma (ORPHA:247762)
A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.
Lipodystrophy due to peptidic growth factors deficiency (ORPHA:1979)
A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.
Lipodystrophy-intellectual disability-deafness syndrome (ORPHA:50811)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Lipoic acid synthetase deficiency (ORPHA:401859)
A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.
Lipoprotein glomerulopathy (ORPHA:329481)
A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.
Liposarcoma (ORPHA:69078)
Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.
Epidemiology
Liposarcomas account for approximately 15-20% of all soft tissue sarcomas. The incidence is approximately 1 per 100, 000 persons/years.
Clinical description
They can affect all age groups but are most frequently seen in middle-aged and older adults. Liposarcomas are classified into 4 biological groups (encompassing five histological subtypes): well-differentiated (WDLS), dedifferentiated (DDLS), myxoid /round cell (MRCLS) and pleomorphic (PLS) (see these terms).
Etiology
The etiology is unknown but many chromosomal aberrations are found in liposarcomas.
Prognosis
The prognosis is dependent on the specific subtype, size, stage and location of the disease.

                            Last update: 
                            January 2013


                            - Expert reviewer(s): 
                            Dr Samuel SINGER
Lipoyl transferase 1 deficiency (ORPHA:401862)
A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.
Lipoyl transferase 2 deficiency (ORPHA:447795)
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.
Lisch epithelial corneal dystrophy (ORPHA:98955)
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.
Epidemiology
Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. LECD has been documented in one German family and in rare sporadic cases in Germany and the USA.
Clinical description
Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age.
Etiology
The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
Genetic counseling
An X-linked recessive pattern of inheritance has been reported.
Management and treatment
The pathologic corneal epithelium can be removed if the symptoms demand such a treatment.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Lissencephaly due to LIS1 mutation (ORPHA:95232)
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Lissencephaly syndrome, Norman-Roberts type (ORPHA:89844)
Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.
Epidemiology
The prevalence is unknown.
Clinical description
Severe intellectual deficit, spasticity and epilepsy are also present.
Etiology
Mutations in the RELN gene (7q22) have been identified in some patients.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            March 2008
Lissencephaly type 3-familial fetal akinesia sequence syndrome (ORPHA:86821)
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).
Lissencephaly type 3-metacarpal bone dysplasia syndrome (ORPHA:86822)
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.
Lissencephaly with cerebellar hypoplasia type A (ORPHA:100011)
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.
Lissencephaly with cerebellar hypoplasia type B (ORPHA:100012)
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
Lissencephaly with cerebellar hypoplasia type C (ORPHA:100013)
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
Lissencephaly with cerebellar hypoplasia type D (ORPHA:100014)
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
Lissencephaly with cerebellar hypoplasia type E (ORPHA:100015)
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.
Lissencephaly with cerebellar hypoplasia type F (ORPHA:100016)
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
Lissencephaly with cerebellar hypoplasia (ORPHA:86823)
Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.
Listeriosis (ORPHA:533)
A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.
Livedoid vasculopathy (ORPHA:542643)
A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.
Liver adenomatosis (ORPHA:566841)
A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.
LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
Lobar holoprosencephaly (ORPHA:93924)
A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.
Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.
Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.
Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.
Localized dystrophic epidermolysis bullosa (ORPHA:595356)
A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).
Epidemiology
The prevalence is unknown.
Clinical description
The disorder manifests at birth or during infancy with trauma-induced blisters but in some cases may be delayed until the adolescence. Blisters are limited to the extremities or the anterior lower legs. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Individual lesions, which tend to be papular or plaque-like, are often violaceous, suggesting the clinical diagnosis of lichen planus. Some patients complain of pruritus. Dystrophy of both fingernails and toenails is characteristic.
Etiology
The disorder is caused by mutations within the type VII collagen gene (COL7A1; 3p21.31). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.
Diagnostic methods
Diagnosis is suspected on clinical presentation and confirmed by genetic testing. Immunofluorescence antigen mapping and/or transmission electron microscopy on skin samples may show only discrete changes.
Differential diagnosis
The differential diagnosis includes localized subtypes of epidermolysis bullosa simplex or junctional EB and lichen planus.
Antenatal diagnosis
Antenatal diagnosis is not recommended.
Genetic counseling
The disorder can be autosomal dominant or recessive. Genetic counseling will depend on the type of inheritance or if the disease occurs sporadically. The nail only form is usually autosomal dominant.
Management and treatment
Management is preventive: protective padding of the skin and appropriate lifestyle measures reduce blistering, and careful wound care prevents secondary infection and reduces scarring.
Prognosis
Prognosis is very good, life expectancy is not influenced by this form of EB.

                            Last update: 
                            May 2021


                            - Expert reviewer(s): 
                            Pr Cristina HAS | ERN-Skin*


                                * European Reference Network
Localized epidermolysis bullosa simplex (ORPHA:79400)
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Epidemiology
Reported prevalence ranges from 1/318,000 for localized EBS in the United States to 1/35,000 for localized EBS and non-Dowling-Meara generalized EBS (combined) in Scotland. About two-thirds of EBS patients have the localized basal form.
Clinical description
Onset is usually in late infancy or early childhood. The usual distribution of blisters in these patients is on the palms and soles, although other skin surfaces may also blister if subjected to significant trauma. Milia and scarring are rare in localized EBS, and dystrophic nails are uncommon. Focal keratoderma of the palms and soles may occur by adulthood in some patients. The only common extracutaneous finding in localized EBS, i.e. localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one third of patients, and is usually seen only during infancy.
Etiology
Localized EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.
Genetic counseling
Transmission is autosomal dominant and sporadic cases are frequent.
Prognosis
Although the disease can be disabling, life-expectancy is normal.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Pr Giovanna ZAMBRUNO
Localized junctional epidermolysis bullosa (ORPHA:251393)
A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.
Localized lichen myxedematosus with mixed features of different subtypes (ORPHA:90398)
Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).
Epidemiology
Localized LM with mixed features of different subtypes is a rare disease and to date only a few cases have been described in the literature.
Clinical description
The disease affects middle age adults and manifests with mixed features of the 5 subtypes of localized LM (discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM). One case is reported as having features of both acral persistent papular mucinosis and self-healing juvenile cutaneous mucinosis (see this term) with carpal tunnel syndrome.
Etiology
As all primitive mucinosis, the pathogenesis of localized LM with mixed features of different subtypes is still unknown.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Elisa CINOTTI  - Pr Franco RONGIOLETTI