Edit concept Question Editor Create issue ticket

Rapp-Hodgkin Syndrome

RHS


Presentation

  • A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails.[ncbi.nlm.nih.gov]
  • Abstract We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome.[ncbi.nlm.nih.gov]
  • We present a case of recurrent cicatricial stenosis of the external ear canals caused by ectodermal dysplasia, specifically Rapp-Hodgkin syndrome, in a 45-year-old woman.[ncbi.nlm.nih.gov]
  • Here we present a family with Rapp-Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well.[ncbi.nlm.nih.gov]
  • The case of a white girl with the condition is presented. The differential diagnosis is discussed, and the eight previously reported cases are reviewed. Another (ninth) previously reported case is considered for inclusion in the group.[ncbi.nlm.nih.gov]
Short Stature
  • […] frenulum and sublingual caruncles Front prominent nasal Glossy tongue Hypoplastic ala nasi Hypothelia Labial anomalies Low nasal bridge Show images Narrow nose Small ears Velopharyngeal incompetence Genitourinary Hypospadias of the male genitalia Growth Short[datagenno.com]
  • Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae[xpertdox.com]
  • Other very rare symptoms include webbing of the fingers and toes and short stature. DIAGNOSIS General: Rapp-Hodgkin syndrome (RHS) may be diagnosed following a thorough family history and complete physical.[health24.com]
  • Its other features are hypohidrosis, a peculiar face with a narrow nose and a small mouth, short stature, hypospadias, pili torti or pili canaliculi (uncombable hair), and normal intelligence. 29– 34 The association of hypohidrosis, sparse hair, nail[jmg.bmj.com]
Fissured Tongue
  • The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting.[ncbi.nlm.nih.gov]
Decrease in Height
  • Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae[xpertdox.com]
Hearing Impairment
  • Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth[malacards.org]
  • Signs and symptoms : Common features of this syndrome include brittle, sparse and dry hair with alopecia in adulthood, hypohidrosis (a reduced ability to sweat due to decrease in the number of sweat glands), heat intolerance, dental anomalies, hearing[xpertdox.com]
  • Some individuals with ectodermal dysplasia, particularly those with EEC syndrome, may have hearing impairment. Structural birth defects may occur in some ectodermal dysplasias.[encyclopedia.com]
Cup-Shaped Ears
  • The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy.[ncbi.nlm.nih.gov]
Sparse Fine Hair
  • fine hair Thin with decreased number of sweat pores[datagenno.com]
  • The congenital erythroderma in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair (hypotrichosis) Can be brittle, coarse or wiry with[nfed.org]
  • Dermatologic abnormalities include sparse fine hair; dry skin, and unique pigmentary skin changes. Excessive freckling in sun-exposed areas is common and progresses with age and sun exposure.[ncbi.nlm.nih.gov]
Follicular Plugging
  • Histopathological examination of skin revealed hyperkeratosis, acanthosis, follicular plugging, increased pigmentation of basal layer, pigmentary incontinence, perivascular inflammatory infiltrate, and decreased pilosebaceous follicles [Figure 2] a and[idoj.in]
  • Histopathology of skin must be done and is expected to reveal evidence of hyperkeratosis, acanthosis, follicular plugging, superficial perivascular infiltrate, increased pigmentation of basal layer, and decreased pilosebaceous follicles.[xpertdox.com]
Thin Skin
  • Symptoms - Rapp-Hodgkin syndrome * Thin skin * Reduced number of sweat pores * Sparse hair * Fine hair * Pili canaliculi * Small nails * Missing teeth * Small teeth * Conical teeth * Low nasal bridge * Narrow nose * Hypoplastic nostrils * Maxillary hypoplasia[checkorphan.org]
Papule
  • Dermatological examination revealed dry, hyperpigmented skin with generalized distribution of follicular papules, sparse eyebrows and eyelashes, epiphora, microtia, and orofacial clefting [Figure 1] a and [Figure 1] b.[idoj.in]
Narrow Nose
  • Abstract A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and[unboundmedicine.com]
  • Inheritance in Man www.ncbi.nlm.nih.gov/Omim Close Signs / Symptoms (24) Craniofacial Absent lingual frenulum and sublingual caruncles Front prominent nasal Glossy tongue Hypoplastic ala nasi Hypothelia Labial anomalies Low nasal bridge Show images Narrow[datagenno.com]
  • Rapp-Hodgkin syndrome An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair;[medical-dictionary.thefreedictionary.com]
  • Abstract An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry.[q9.placate.us]
Mid-Face Hypoplasia
  • Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.[ncbi.nlm.nih.gov]
  • Results Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and midface hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.[doi.org]
Incontinence
  • Histopathological examination of skin revealed hyperkeratosis, acanthosis, follicular plugging, increased pigmentation of basal layer, pigmentary incontinence, perivascular inflammatory infiltrate, and decreased pilosebaceous follicles [Figure 2] a and[idoj.in]
  • Histopathologic features of skin biopsies may reveal epidermal atrophy, pigment incontinence, and a prominent superficial perivascular plexus with limited lymphocytic infiltrate [ Dishop et al 2009 ]. Hair changes become more obvious with age.[ncbi.nlm.nih.gov]

Workup

  • CLINICAL Section 3 of 11 Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography History: Individuals affected by EDS have abnormalities in different structures.[doctors.co.il]

Treatment

  • The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation.[ncbi.nlm.nih.gov]
  • Restorative treatment was performed on all primary canines, followed by aquisition of maxillary and mandibular impressions for fabrication of acrylic removable partial dentures with circumferential clasps on the primary canines.[ncbi.nlm.nih.gov]
  • These findings are significant because successful dental treatment of RHS relies upon accurate assessment of current and projected orofacial development, particularly for the skeletal relations of the maxilla and mandible.[ncbi.nlm.nih.gov]
  • The focus of our treatment was to restore the function and esthetics. However, this should not underestimate the importance of prevention. Age and psychological aspect governed our treatment.[jisppd.com]

Prognosis

  • Prognosis - Rapp-Hodgkin syndrome Not supplied.[checkorphan.org]
  • 2,321.18 Ibritumomab Tiuxetan Monoclonal antibody therapy, Radioimmunotherapy, B cell, Non-Hodgkin lymphoma, Myeloproliferative disease Medicine Anim Publishing (2012-06-02) - ISBN-13: 978-613-6-79302-3 34.00 2,721.38 International Prognostic Index Prognosis[morebooks.de]
  • Doctors typically recommend that treatment be started early to ensure the best possible prognosis for the child. Surgery: Patients with RHS may require reconstructive surgery to correct a cleft palate or cleft lip.[health24.com]

Etiology

  • (Etiology) Rapp-Hodgkin Syndrome is a genetic disorder that is caused by mutations in the TP63 gene The condition is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when[dovemed.com]
  • The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance. Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K.[ijdvl.com]
  • Description All ectodermal dysplasias have a genetic etiology and involve abnormal development and growth of tissues derived from the ectoderm.[encyclopedia.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.es]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.es]
  • SNPs for DLX6 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX6 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for DLX6 Genetic Association Database (GAD) DLX6 Human Genome Epidemiology[genecards.org]
  • The gene locus for AEC syndrome and Hay-Wells syndrome is on the long arm of chromosome 3. [ 5 ] Epidemiology These are exceedingly rare conditions with only a handful of reported cases.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • The following are the 3 most commonly recognized entities: EEC (ectodermal dysplasia, ectrodactyly, cleft lip/palate) syndrome Rapp-Hodgkin syndrome Hay-Wells or AEC (ankyloblepharon, ectodermal dysplasia, cleft lip/palate) syndrome Pathophysiology: ED[doctors.co.il]

Prevention

  • Topical management of the recurring external otitis slows the process but has been unsuccessful in preventing restenosis of both external auditory canals.[ncbi.nlm.nih.gov]
  • […] maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency * Fetal alcohol syndrome * Treacher Collins syndrome Prevention[checkorphan.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!