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Rombo syndrome

Rombo syndrome - Wikipedi

From Wikipedia, the free encyclopedia Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema, peripheral vasodilation with cyanosis, and a propensity to develop basal cell carcinomas. The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis Acta Derm Venereol . 1981;61(6):497-503 Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis

The Rombo syndrome: a familial disorder with vermiculate

It is considered X-linked dominant and presents similar features to the Rombo Syndrome. Other features include the presence of a pinched nose with hypoplastic alae and prominent columella. This medical condition has been reported mainly in France and all patients were Caucasians. + + Rombo syndrome Other names Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis Rombo syndrome is inherited in an autosomal dominant manner[1] Rombo syndrome is a very rare [en.wikipedia.org]. Abstract This hitherto unknown and dominantly inherited disorder is characterized by vermiculate atrophoderma, milia. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Michaelsson G, Olsson E, Westermark P. Acta Derm Venereol. 1981;61(6):497-503. PMID 6177160 : A case of Rombo syndrome. van Steensel MA, Jaspers NG, Steijlen PM Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and.

Rombo syndrome (Concept Id: C1867147

Rombo-Syndrom Das Rombo-Syndrom ist eine sehr seltene angeborene Genodermatose mit den Hauptmerkmalen einer wurmförmigen Atrophodermie, spärlicher Behaarung, verminderter Schweißsekretion und Neigung zu Basalzellkarzinomen. Die Bezeichnung bezieht sich den Namen des erstbeschriebenen Patienten aus dem Jahre 1981 durch G. Michaëlsson und Mitarbeiter Rombo syndrome: A second case report and review. Author links open overlay panel Robin Ashinoff MD Mark Jacobson MD Donald V. Belsito MD. Show mor ROMBO SYNDROME Skin - Cyanotic redness of lips and hands - Follicular skin atrophy of cheeks - Whitish-yellow, milia-like facial papules - Facial telangiectatic vessels [UMLS: C0858684 HPO: HP:0007380] [HPO: HP:0007380 UMLS: C0858684] - Vermiculate atrophoderma. Rombo Syndrome. Rombo syndrome is an autosomal dominant genetic disease, although the gene is not known. The syndrome has only been identified in one family. Related skin lesions: Milia and Telangiectasia. Familial multiple discoid fibromas (FMDF) FMDF is an autosomal dominant genetic disease

OMIM Entry - 180730 - ROMBO SYNDROM

Rombo syndrome is a rare entity characterized by the presence of atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema and a propensity to develop basal cell. Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most.

Definition Bei 12 Mitgliedern einer Familie beschriebene, wahrscheinlich autosomal-dominant vererbte Genodermatose, gekennzeichnet durch im Alter von 7-10 Jahren auftretende Akrozyanose und Keratosis follicularis, später Entwicklung zahlreicher Milien, Ausfall von Wimpern und Augenbrauen, Atrophodermia vermiculata, multiple Trichoepitheliome und Basalzellkarzinome im frühen Erwachsenenalter. Große Ähnlichkeit besteht mit dem Bazex-Dupré-Christol-Syndrom Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face,: 580 multiple milia, telangiectases, acral erythema, peripheral vasodilation with cyanosis, and a propensity to develop basal cell carcinomas.. The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face The Rombo syndrome is a very rare congenital genodermatosis with the main features of a worm-like Atrophodermie, sparse hair, decreased sweating and a tendency to basal cell carcinoma.. The designation refers to the name of the first described patient from 1981 by G. Michaëlsson and colleagues

What is Rombo syndrome? - Today on Medscap

  1. Syndrome de Rombo: En savoir plus sur les symptômes, le diagnostic, le traitement, les complications, les causes et le pronostic
  2. NIH GARD Information: Rombo syndrome. This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD). Synonyms. Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis
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  4. Attention. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us.Only comments written in English can be processed
  5. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol. 1981; 61(6):497-503 (ISSN: 0001-5555) Michaëlsson G; Olsson E; Westermark
  6. ant or X-linked syndrome of hypotrichosis. Antenatal diagnosi

Rombo Syndrome Syndromes: Rapid Recognition and

The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 1981; 61:497 Rombo syndrome - Rombo syndrome is a genetic syndrome characterized by facial follicular atrophy, atrophoderma vermiculatum, multiple milia, hypotrichosis, Vulvar lesions: Differential diagnosis of yellow, skin-colored, and edematous lesion

Rombo syndrome; Bazex syndrome; Management Surgery. Mohs microsurgical excision is the mainstay of treatment for BCCs. This technique allows for complete removal of lesions whilst preserving the amount of non-involved tissue. Medical therapy Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of. Persistent milia have been reported as a feature of several genodermatoses, including Bazex-Dupre-Christol syndrome, Rombo syndrome, Rasmussen syndrome (a variant of Brooke-Spiegler syndrome), orofacial digital syndrome type 1, and atrichia with papular lesions

Muir-Torre syndrome is a rare cancer predisposition syndrome characterized by unusual cutaneous tumors and internal malignancy. 1,2 The cutaneous tumors associated with Muir-Torre syndrome include mainly sebaceous gland neoplasms (sebaceous adenoma and sebaceous carcinoma), keratoacanthoma, and basal cell carcinoma. 1-3 Colorectal and genitourinary carcinoma are the common types of internal. MFT are often cited feature of Rombo syndrome which is characterized by follicular atrophy, atrophoderma vermiculata, acral cyanosis, milia, hypotrichosis, and basal cell cancers. As a matter of fact, multiple trichoepitheliomas were reported only in one family member from the original case [ 7 ]

Video: Rombo syndrome - Altmeyers Encyclopedia - Department

Rombo syndrome: a second case report and revie

  1. Download PDF: Sorry, we are unable to provide the full text but you may find it at the following location(s): http://documents.irevues.inist... (external link
  2. ant. See image to right. MNEMONIC NOTES: Bazex's Follicular Atrophoderma (Bazex-Dupre-Christol) ADDITIONAL CREDIT: Matt : REFERENCES: Galderma review binder 2010-2011, p. 37
  3. @article{Michalsson1981TheRS, title={The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.}, author={G. Micha{\e}lsson and E. Olsson and P. Westermark}, journal={Acta dermato-venereologica}, year={1981}, volume={61 6.

ROMBO SYNDROME Cancer Screening U

Request PDF | Rombo syndrome: Report of a case | We report a case of a 13-year-old girl, observed in our clinic, in 1996, for a brown, depressed plaque on the left cheek, with one year duration. Rombo's syndrome : Multiple trichoepitheliomas, milia, and vermiculate atrophy: Basal cell carcinoma, peripheral vasodilation, and cyanosis: Bazex-Dupre-Christol syndrome [25, 26] Congenital hypotrichosis, follicular atrophoderma, milia, basal cell carcinomas, and hypohidrosis A Rombo-szindróma nagyon ritka genetikai rendellenesség, amelyet elsősorban az arc atrophoderma vermiculatum , többszörös milia , telangiectases , acral erythema , perifériás vazodilatáció és cyanosis jellemez , valamint a bazális sejtes karcinómák kialakulására való hajlam jellemzi. Az elváltozások késő gyermekkorban válnak láthatóvá, 7-10 éves korban kezdődtek. Het Rombo syndroom is een zeldzaam syndroom gekenmerkt door de aanwezigheid van atrophoderma vermiculatum in het gelaat, multipele milia , tricho-epitheliomen, teleangiëctasieën, acraal erytheem en een verhoogde kans op het ontstaan van basaalcelcarcinomen. Referenties. 1. Van Steensel MA, Jaspers NG, Steijlen PM

Multiple Facial Milia in Patients With Loeys-Dietz

Sindrome Rombo è una malattia genetica molto rara caratterizzata principalmente da atrofodermia vermiculatum del volto, più milia , teleangectasie , acrale eritema , periferiche vasodilatazione con cianosi , ed una propensione a sviluppare carcinomi a cellule basali. Le lesioni diventano visibili nella tarda infanzia, sono iniziate all'età di 7-10 anni e sono più pronunciate sul viso However, an underlying Mendelian disorder should be suspected in a specific subset of patients, namely those with multiple, early onset lesions. Some specific conditions, including Gorlin, Bazex-Dupré-Christol and Rombo syndromes, and Xeroderma Pigmentosum, show BCC as a prominent feature

Rombo Syndrome disease: Malacards - Research Articles

Bazex-Dupré-Christol syndrome is a rare X-linked dominant inherited disorder of the hair follicle characterised by: Follicular atrophoderma (the breakdown of follicles on the skin) of the extremities. Multiple basal cell carcinomas of the face. Milia. Localised or generalised hypohidrosis (diminished sweating different syndromes • Multiple familial trichoepithelioma (AD) • Brook-Spiegler Syndrome (AD) • Rombo syndrome Trichoepithelioma • Histologic features: • Dermal neoplasm that may show focal attachment to the overlying epidermis • Basophilic nests of cells surrounded by a dense fibrous stroma • Stroma to stroma retractio Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face [1]:580, multiple milia, telangiectases, acral erythema [2],peripheral vasodilation with cyanosis [3] and a propensity to develop basal cell carcinoma Синдром Ромбо - очень редкое генетическое заболевание, характеризующееся в основном.

Rombo syndrome: Author: Huret, JL: Description: Review on Rombo syndrome, with data on clinics, and the genes involved. Subject: Chromosome 99; Cancer Prone Diseases Section. Predisposing genetic syndromes (ex. Gorlin's Basal Cell Nevus Syndrome, Rombo Syndrome, Brooke-Spiegler Syndrome, Bazex-Dupré-Christol Syndrome, Schopf-Schulz-Passarge Syndrome, Multiple hereditary infundibulocystic BCC

Rombo syndrome BCCs, vermiculate atrophoderma, trichoepitheliomas Oro-facial-digital syndrome (type 1, XLD) Basal cell nevus (Gorlin) syndrome Brooke-Spiegler syndrome Pachyonychia congenita type II (Jackson-Lawler) Atrichia with papular lesions Down syndrome Secondary Porphyria cutanea tarda Epidermolysis bullosa PHYSIOLOGI The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis,trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 1981; 61: 497-503. View article Google Scholar; van Steensel MA, Jaspers NG, Steijlen PM. A case of Rombo syndrome Elin Rombo och Stockholm Syndrome Ensemble i ljuv förening. 45. 5. SSE:s Johannes Rostamo gör Cello, Cello, Cello! 39. See All. Posts. Stockholm Syndrome Ensemble added an event. November 4, 2020 · SAT, NOV 7, 2020. Breaking the Chains - in the Spirit of Beethoven, Växjö 2. Nygatan 6 · Växjö, Sweden A case of Rombo syndrome Publication British Journal of Dermatology , Volume 144 - Issue 6 p. 1215- 121

Rombo syndrome: A second case report and review

Rombo Syndrome: Symptoms, Diagnosis and Treatment - Symptom

This is a multicenter, randomized, double-blind, stratified, vehicle-controlled study of the efficacy and safety of Patidegib Topical Gel, 2%, applied topically twice daily to the face of adult participants with non-Gorlin HF-BCC (high-frequency basal cell carcinoma) Basal cell carcinoma (BCC) is the most common malignant neoplasm, with an estimated overall lifetime risk of 30% in the United States. 1,2 Although BCC may cause extensive local tissue destruction if not adequately managed, metastasis is exceedingly rare. 2 The diagnosis of BCC is usually straightforward on the dermatopathology service. However, BCC may display overlapping histopathologic. What Is The Most Common Skin Disease/Skin Diseases are sometimes thought of, in planning terms, as small-time players in the global league of illness com Rombo syndrome (OMIM 180730) Autosomal-dominant syndrome characterized by BCCs, atrophoderma vermiculata (erythematous follicular papules on the cheeks which slowly progresses to atrophy with a reticular or honey-comb appearance), multiple milia, telangetasias, and a cyanotic rednes

Rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum) and has a wide variety of etiologies including infection, autoimmune disease, and paraneoplastic syndrome, with Listeria monocytogenes being cited as the most common cause. Rhombencephalitis carries significant morbidity and mortality. For a specific discussion, please refer to articles Multiple basal cell carciomas are listed as a prominent feature in these syndromes: Gorlin, Bazex-Dupré-Christol, Rombo, xeroderma pigmentosum Basal cell carcinoma may represent a relatively common, although less specific finding in these genodermatoses and medical conditions Trichoepithelioma is a rare neoplasm originating from basal cells in hair follicles. It can present as a solitary nodule or multiple nodules with familial or non-familial inheritance pattern. It rarely presents as a solitary nodule on the upper eyelid, though this is exceedingly rare. It is often confused basal cell carcinoma, though modern immunohistochemistry and pathology have improved. Juvenile milia may be associated with inherited disorders such as Rombo syndrome, Gardner syndrome, basal cell naevus syndrome, pachyonchia congenita, Bazex Dupre Christol syndrome. Milia en plaqu

Rombo syndrome - atlasgeneticsoncology

You may also need to consult your doctor for multiple eruptive milia that develop suddenly as they may be a symptom of an underlying genetic condition such as basal cell nevus syndrome or Rombo syndrome. Milia caused by epidermolysis bullosa also need to be checked by a doctor to avoid complications Brooke-Spiegler syndrome is an uncommon disease with a predisposition to develop cutaneous adnexal neoplasms such as cylindromas, trichoepitheliomas, spiradenomas, trichoblastomas, basal-cell carcinomas, follicular cysts, organoid nevi, and malignant transformation of pre-existing tumors in the affected individuals [ 1 ]

Parry-Romberg Syndrome Information Page National

The main risk factor for developing Gardner's syndrome is having at least one parent with the condition. A spontaneous mutation in the APC gene is a much less common occurrence The ensemble was the subject of a documentary for Swedish TV. Stockholm Syndrome Ensembles praised debute album Moveable Feast (Channel Classics) with music by Ravel, de Falla and Vaughan-Williams was released in 2016. So far we have had our series of concerts at Musikaliska. See here link for our previous projects Brooke-Spiegler syndrome is a rare genodermatosis characterized by a triad of cutaneous adnexal tumors: cylindromas, spiradenomas, and trichoepitheliomas. This syndrome is inherited in an autosomal dominant pattern, thus affecting males and females in equal numbers, but limited evidence suggests that females may be more severely affected than. Il s'agit d'un tableau d'atteinte du tronc cérébral qui se traduit par des signes qui peuvent se manifester par : ptosis (paupière qui tombe), paralysie faciale (asymétrie de la face), vision double (atteinte des muscles permettant la mobilisation de l'œil), troubles de la déglutition, troubles de la respiration, de la fréquence cardiaque, de la tension artérielle ou trouble de. Inherited syndromes: basal cell carcinoma is a particular problem for families with basal cell naevus syndrome (Gorlin syndrome), Bazex-Dupré-Christol syndrome, Rombo syndrome, Oley syndrome and xeroderma pigmentosum; Other risk factors include ionizing radiation, exposure to arsenic, and immune suppression due to disease or medicines

Rombo-Syndrom - Wikipedi

Rombo syndrome: A very rare disease causing hair loss and skin conditions, including BCCs around age 35; Study: Vitamin B3 May Help Prevent Non-Melanoma Skin Cancers. Squamous Cell Carcinoma . Squamous cell carcinomas (SCCs) are the second most common skin cancer and make up the other 20% of nonmelanoma skin cancers. They develop in the. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol. 1981. 61(6):497-503. . Heal C, Buettner P, Browning S. Risk factors for wound infection after minor surgery in general practice.. Differential diagnosis in a patient with papular facial lesions should include other syndromes such as Cowden syndrome, Brooke-Spiegler syndrome, Rombo syndrome, tuberous sclerosis, and basaloid follicular hamartoma syndrome. 25,27-33 Diagnosis is based on clinical features and histologic study Inherited syndromes: BCC is a particular problem for families with basal cell naevus syndrome (Gorlin syndrome), Bazex-Dupré-Christol syndrome, Rombo syndrome, Oley syndrome and xeroderma pigmentosum; Other risk factors include ionising radiation, exposure to arsenic, and immune suppression due to disease or medicine Sejal Shah, a dermatologist in New York City, also added that milia have been associated with genetic syndromes such as Rombo syndrome, basal cell naevus syndrome, and Gardner syndrome, to name a few

OMIM Clinical Synopsis - 180730 - ROMBO SYNDROM

Other causes of skin tags - Birt-Hogg-Dubé Syndrom

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) | IntechOpenTrichoepithelioma | Basicmedical KeySquamous cell carcinoma skin

Inherited syndromes: BCC is a particular problem for families with basal cell naevus syndrome (Gorlin syndrome), Bazex syndrome, Rombo syndrome and xeroderma pigmentosum ,albinism Other risk factors include ionising radiation, exposure to arsenic, coal tar, smoking tanning bed and immune suppression due to disease or medicines 6 These include Rombo syndrome, Bazex's syndrome and Xeroderma pigmentosum. Brooke-Spiegler Syndrome. Brooke-Spiegler syndrome is characterised by multiple benign tumours of the skin appendages. The condition is very rare and typically affects the head and neck region. Accurate estimates of the syndrome frequency are not available Rombo syndrome; Bazex-Dupre-Christol syndrome; 100+ PUVA sessions. Used to treat psoriasis and some other conditions that affect the skin, this therapy involves taking a medication called psoralen, which makes your skin more sensitive to UV light. After the medication takes effect, the skin that needs treatment is exposed to controlled UV ligh Rombo syndrome is a rare entity characterized by the presence of atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema and a propensity to develop basal cell carcinomas. We describe a patient whose clinical and histopathological abnormalities are consistent with this diagnosis