The X-linked recessive form presents as mental retardation, short stature and mild ichthyosis; there are also no eye lesions. As described above, each of these symptoms presents with a unique constellation of clinical symptoms. [dermatologyadvisor.com]

We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. [jhu.pure.elsevier.com]

( kon-rah'dē hin'ĕr-mahn ), one of the syndromes of chondrodysplasia punctata (q.v.), autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present [medical-dictionary.thefreedictionary.com]

• Fatigue

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.com]

  Syndrome (CFS) / Myalgic Encephalomyelitis (ME) / Chronic Fatigue Immune Dysfunction (CFIDS) Chronic Obstructive Pulmonary Disease (COPD) Chronic Renal Disease Complex Regional Pain Syndrome (CRPS) Conradi-Hunermann syndrome Coronary artery disease Crohn [thecenterforchronicillness.org]

• Swelling

  Leukoencephalopathy with swelling and a discrepantly mild clinical course. Ann Neurol 1995; 37:324-334. Crossref, Medline, Google Scholar 5 Van der Knaap MS, Barth PG, Vrensen FGJM, Valk J. [pubs.rsna.org]

• Saddle Nose

  The severe form is characterised by marked congenital rhizomelic dwarfism, flexion contractures of large joints, small chest and saddle nose deformity. Asymmetrical limb shortening and kyphoscoliosis become prominent with age. [ijri.org]

  The disorder recognized by Hünermann also included micromelia, a saddle nose deformity, flexion contractures, cataracts, and a dermopathy. [mhmedical.com]

  However, all three can share systemic manifestations such as short necks, frontal bossing, saddle noses, high arched palates and hypertelorism. [healio.com]

  Systemic features of chondrodysplasia punctata include stippling of the epiphyses, shortening of the femur and humerus, congenital cataracts, and saddle nose. [accesspediatrics.mhmedical.com]

• Failure to Thrive

  This is the only manifestation in most patients with HIDS, and, in the case of classical mevalonic aciduria, is part of a severe multisystemic disease, including malformations, severe failure to thrive and neurological abnormalities. [thieme-connect.com]

  All affected infants have severe failure to thrive, mental retardation, joint contractures, and cataracts. [mhmedical.com]

  Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  […] to thrive SOURCES: OMIM ORPHANET MENDELIAN More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Low match CARDIOFACIOCUTANEOUS SYNDROME Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital [mendelian.co]

  […] to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia Fetal Alcohol Syndrome and Support Fetal Anti-Convulsant Syndrome Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome Froelich's Syndrome Gerneralized [magicfoundation.org]

• Hearing Impairment

  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi Related symptoms: Intellectual disability Short stature Hearing impairment Microcephaly Scoliosis SOURCES: MESH OMIM MENDELIAN More info about [mendelian.co]

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

  impairment heart defects mental retardation mid-face abnormalities kidney malformations prematurity punctate vertebrae (dotted appearance in x rays) short and in-curving fingers shortened limbs Diagnosis For parents who know that they are carriers of [encyclopedia.com]

  The hearing impairment in this disease is progressive and due to neurosensory deafness. Keratitis begins during childhood and is accompanied by neovascularization. Visual loss may be severe. [accesspediatrics.mhmedical.com]

• Alopecia

  Scalp involvement results in patchy, scarring alopecia. [escholarship.org]

  Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. [hgsc.bcm.edu]

  Keywords: EBP gene; alopecia; genodermatosis; ichthyosis; trichoscopy. © 2022 Wiley Periodicals LLC. References REFERENCES Cañueto J, Girós M, Ciria S, et al. [pubmed.ncbi.nlm.nih.gov]

  As a child she had linear ichthyosis, difference in leg length and congenital alopecia in a linear pattern. CONCLUSION For diagnosis and treatment of children with such a rare syndrome a multidisciplinary approach is essential. [wwww.unboundmedicine.com]

• Dermatitis

  Patient Presentation A full-term African-American female was born with an ichthyosiform dermatitis following Blaschko’s lines that spared only her face (Figure 1). [the-dermatologist.com]

  Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform dermatitis Clinical types Greenberg dysplasia dappled diaphysis dysplasia [humpath.com]

  Acta Dermato-Venereologica covers inter alia: ~ Atopic dermatitis and contact allergy ~ Facial dermatoses and adnexal disorders ~ New treatments ~ Psoriasis and genodermatoses ~ Psychodermatology ~ Sexually transmitted diseases ~ Skin biology and inflammation [ingentaconnect.com]

  Intermittent flares of eczematous dermatitis have been treated with various topical glucocorticoids. [escholarship.org]

  Histologically, it may resemble psoriasis or nonspecific chronic dermatitis. Figure 12–41 This is a descriptive term for a velvety or verrucous brown-to-black area of hyperkeratosis. [accesspediatrics.mhmedical.com]

• Pruritus

  Harris Skin and Cancer Pavilion in February, 2009, for evaluation of dry skin and pruritus. She was born with red, scaly skin that persisted until approximately one year of age, when the erythema was replaced by pigmentary alteration. [escholarship.org]

  There is generalized dryness of skin and occasional pruritus. Nails are dystrophic. Hair is sparse and brittle. He is slender with short stature and microcephaly. The chin is pointed, and the facial outline is triangular with protruding ears. [hindawi.com]

  Polyhydramnios Sparse and thin eyebrow Weight loss Nail dystrophy Abnormality of hair texture Respiratory tract infection Infantile spasms Fine hair Biparietal narrowing Generalized hyperpigmentation Leukemia Microphthalmia Neurological speech impairment Pruritus [mendelian.co]

  Effective treatment of uraemic pruritus and acquired perforating dermatosis with amitriptyline. Australas J Dermatol 2014;55:e54–7. Cross Ref link Pubmed link 728 Escribano‐Stablé JC, Doméneck C, Matarredona J, et al. [rooksdermatology.com]

• Skin Disease

  X-chromosome inactivation: role in skin disease expression. Acta Paediatr 2006; 95: 16 [PubMed] 5. Sutphen R, et al. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am J Med Genet 1995; 57: 489 [PubMed] 6. [escholarship.org]

  For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under “Rare Disease Information”. The information provided in this report is not intended for diagnostic purposes. [metrohealth.net]

  Clinically calcifications in long bones, general skeletal malformation, skin diseases, cataract, and low stature, similar to the ones described in the literature were observed in this female case [5-7]. [cyberleninka.org]

  Skin diseases in Kenya: a clinical and histopathological study of 3168 patients. Arch Dermatol 1968;98:577–86. Cross Ref link Pubmed link 340 Garrett AS. Granuloma multiforme (called Nkanu disease in the 1940s and Mkar disease in 1964). [rooksdermatology.com]

• Keratosis

  Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Clumsiness Specific learning disability Otitis media Arthritis Respiratory failure Abdominal pain Elevated alpha-fetoprotein Intraventricular hemorrhage Diarrhea Muscle cramps Seborrheic keratosis [mendelian.co]

  Children with ichthyosis vulgaris are likely to have increased skin markings on the palms and soles and a high incidence of keratosis pilaris (see Figs. 8-46–8-48). [accesspediatrics.mhmedical.com]

• Short Neck

  This new born had many features corresponding to a dysplasic neonatal nanism, icthisyform syndrome, femur asymmetrical shortening, polydactily, short neck, clinodactily on right hand, and periarticular calcifications mainly in shoulders and knee, plathiespondily [medigraphic.com]

  Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform dermatitis Clinical types Greenberg dysplasia dappled diaphysis dysplasia [humpath.com]

  The clinical features in the milder form are nonspecific like mongoloid face, snub nose, slanting of the eyes, short neck and trunk, cataract and mild skeletal deformities. Dwarfism is not severe. [ijri.org]

  Figure 1 Clinical photo taken at the age of 2 months showed short neck, and predominantly rhizomelic shortening of the upper and lower limbs. Note left femur more severely affected than the right. [hkjpaed.org]

  Her neck, legs and arms appeared short, with the left leg shorter than right. [healio.com]

Further workup may be indicated in some children but should be done with the assistance of a developmental pediatrician or geneticist to focus the testing for improving the likelihood of a positive result (Tables 11.2 and 11.3). [entokey.com]

Treatment progress The treatment was started after achieving the IJ stage, when the patient was 14 years and 10 months old. [cyberleninka.org]

Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional. [healthetreatment.com]

Management and treatment Management is multidisciplinary. Treatment of skin lesions includes the use of emollients and keratolytics (i.e. ammonium lactate 12%, petrolatum ointment). [orpha.net]

What are the available treatments for Conradi-Hünermann syndrome? Unfortunately, there is no cure for Conradi-Hünermann syndrome as of yet, so treatment is directed towards managing the symptoms of the condition and supporting its’ patients. [patientworthy.com]

Treatment - Conradi-Hunermann syndrome Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. [checkorphan.org]

Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3. [radiopaedia.org]

Incontinentia pigmenti Lab Bone films Neonatal skin biopsy may reveal calcium in the epidermis with von Kossa's stain Peroxisomal function in cultured fibroblasts Management Referral to orthopedist, dermatologist, ophthalmologist Examine first degree relatives Prognosis [cram.com]

Prognosis - Conradi-Hunermann syndrome Not supplied. Treatment - Conradi-Hunermann syndrome Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. [checkorphan.org]

Prognosis Prognosis of chondrodysplasia punctata depends on the type. The rhizomelic form of this disorder has a very poor prognosis. [encyclopedia.com]

A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes. [tandfonline.com]

However, this patient had findings suggestive of a hereditary etiology, which initially prompted the ophthalmic consultation, and further tests were done. [healio.com]

Etiology CDPX2 is due to mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol [orpha.net]

The visual significance of the cataract depends on several factors including age of onset, location, etiology, and morphology. Etiology of Childhood Cataracts The etiology of childhood cataracts is vast (Table 11.1). [entokey.com]

Summary Epidemiology Annual incidence has been estimated to be at least 1/400,000 births with 95% of patients being female. Clinical description 'Congenital ichthyosiform erythroderma is the typical neonatal manifestation. [orpha.net]

The epidemiology of progressive encephalopathies in childhood: live birth prevalence in West Sweden. Neuropediatrics 1992; 23:209-211. Crossref, Medline, Google Scholar Article History Published in print: Oct 1999 [pubs.rsna.org]

Skin aging induced by ultraviolet exposure and tobacco smoking: evidence from epidemiological and molecular studies. Photodermatol Photoimmunol Photomed 2001;17:178–83. Cross Ref link Pubmed link Actinic elastosis 9 Kligman AM. [rooksdermatology.com]

In this case report, we discuss the trichoscopic findings in a 3-year-old girl with CHHS and how these findings help us understand the pathophysiology of this disease. [pubmed.ncbi.nlm.nih.gov]

Pathophysiology The molecular mechanism by which mutation of EBP gene causes this characteristic syndrome remains unknown. [dermatologyadvisor.com]

Cutaneous scarring: pathophysiology, molecular mechanisms, and scar reduction therapeutics. Part II. Strategies to reduce scar formation after dermatologic procedures. J Am Acad Dermatol 2012;66:13–24. [rooksdermatology.com]

Prevention - Conradi-Hunermann syndrome Not supplied. Diagnosis - Conradi-Hunermann syndrome signs and symptoms of Conradi-Hunermann syndrome may vary on an individual basis for each patient. [checkorphan.org]

Orthopedic measures, including surgery in severe cases, is recommended to help prevent or correct the skeletal abnormalities that are associated with the disorder (craniofacial malformations, scoliosis, etc.). [patientworthy.com]

Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders. [books.google.ro]

To help, prevent, or correct certain skeletal malformation, orthopedic measures and surgeries are recommended. Also for craniofacial malformations, scoliosis or other physical abnormalities surgery might be advised. [conradihunermannsyndrome.weebly.com]

The children’s physiatrist had prescribed semi-orthopedic anti-varus shoes with correction for her difference in leg length to stimulate her walking independently and prevent further feet deformities. [ntvg.nl]