BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. [ncbi.nlm.nih.gov]

The authors believed that FPHH is distinct from FPH, in which no hypopigmented features are present. [ijdvl.com]

Abstract BACKGROUND Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. [wwww.unboundmedicine.com]

Format Definition A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. [uniprot.org]

Presents outstanding photographs for virtually every common skin disorder. [books.google.com]

• Increased Susceptibility to Infections

  Thirdly, the girl had mild mental retardation, epileptic seizure that happened frequently during the first year, impaired temperature regulation (hyperthemia) and increased susceptibility to infection. [ijdvl.com]

  It includes immunodeficiency in its phenotype, and patients have an increased susceptibility to infections as a consequence of neutropenia. The gene maps to 5q14.1. [plasticsurgerykey.com]

• Hyperthermia

  The epileptiform seizure was always accompanied by hyperthermia, frequently over 40°C. Anticonvulsant therapy has been used for controlling this seizure for one year. She had a history of repeated infections. [ijdvl.com]

• Pharyngitis

  Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. [ncbi.nlm.nih.gov]

  Thymic Aplasia (DiGeorge Syndrome) Immune deficiency T-Cell Deficiency Failure of development of the 3 rd and 4 th Pharyngeal Pouches ------> agenesis of the thymus and parathyroid glands. T-Cell deficiency from no thymus. [kumc.edu]

• Cafe-Au-Lait Spots

  The arrows denote the fewlargeand faint cafe-au-lait spots onhis left chest (a) andonhis lumbar region(b). [myslide.es]

  The arrows denote the margin of a large and fading cafe-au-lait spot on his thigh (a). 218 Hoo and Shrimpton [docslide.net]

  '-au-lait spots, a single amino-acid change in KITLG was reported. [ijdvl.com]

  Back to: « Hyperpigmentation Symptoms of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait spot Hyperkeratosis Hypermelanotic [familydiagnosis.com]

• Generalized Seizure

  The longest persistence time of a generalized seizures exceeded 10 h. The epileptiform seizure was always accompanied by hyperthermia, frequently over 40°C. Anticonvulsant therapy has been used for controlling this seizure for one year. [ijdvl.com]

Dr Manjit Kaur may use diagnostic blood tests and scalp biopsies as part of the diagnostic workup. [thelondonskinandhairclinic.com]

[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Broaden your knowledge with updated information on serological diagnosis of pemphigus, TNF-I for hidradenitis suppurativa, the use of immunosuppressives for atopic dermatitis, excimer laser for the treatment of vitiligo and much more. [books.google.com]

You can help by adding to it. ( May 2018 ) Treatments [ edit ] Often, hypopigmentation can be brought on by laser treatments; however, the hypopigmentation can be treated with other lasers or light sources. [6] Treatment for hypopigmentation depends on [en.wikipedia.org]

As such, reasonable treatment expectations should be discussed with patients before the initiation of treatment. [dermatologyadvisor.com]

Prognosis for MAS is generally favorable and the development of malignancy is rare. [clinicalgate.com]

While the prognosis is dependent on the primary tumor, a study found that the average life expectancy after developing skin metastases was three months. [bobbybukamd.com]

Prognosis in MVP syndrome is better than for MVP in Marfan syndrome, with significantly lower risk for mitral regurgitation. [nature.com]

Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency. [eyewiki.aao.org]

The prognosis for life is good and the pathological fractures unite normally. [drmhijazy.com]

When noninvasive measures are equivocal, a biopsy may help to clarify the underlying etiology. [dermatologyadvisor.com]

Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing [20]. [gulfdoctor.net]

Dermatologist c/o InMedica - Centro Medico Polispecialistico Largo XII Ottobre 62 cell 335.655.97.70 - office 010 5701818 www.lucianoschiazza.it Progressive macular hypomelanosis (PMH) is a condition of unknown etiology characterized by macules that are [lucianoschiazza.it]

ALBRIGHT'S SYNDROME Etiology The cause of this syndrome is unknown. The full syndrome with precocious puberty occurs only in girls. [drmhijazy.com]

20% of patients Koilonychia is present in 50% Localized ichthyosis in 40% Alopecia is common 15 Hemochromatosis Dx: Elevated plasma iron and IBP High serum ferritin without an obvious cause should prompt investigation for both hemochromatosis and PCT Etiology [slideplayer.com]

[…] macularis eruptiva perstans Typical urticaria pigmentosa Primary familial polycythemia Synonym(s): - FPHH Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Diseases of the skin and subcutaneous tissue - Epidemiological [csbg.cnb.csic.es]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders. [link.springer.com]

Diagnosis and Management of Dermal Melanocytosis View Table | Favorite Table | Download (.pdf) Table 75-1 Differential Diagnosis and Management of Dermal Melanocytosis Nevus of Ota Nevus of Ito Mongolian Spot Nevus of Hori Dermal Melanocyte Hamartoma Epidemiology [mhmedical.com]

(This literature review outlines epidemiologic studies on PIH and offers a guide for diagnosis and treatment of PIH in patients with Fitzpatrick skin types IV-VI.) Halder, RM. [dermatologyadvisor.com]

Relevant External Links for KITLG Genetic Association Database (GAD) KITLG Human Genome Epidemiology (HuGE) Navigator KITLG Atlas of Genetics and Cytogenetics in Oncology and Haematology: KITLG No data available for Genatlas for KITLG Gene Allelic Mutations [genecards.org]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders. [link.springer.com]

[…] fluorouracilAntimalarial drugsArsenicBleomycinBusulfanClofazimineDoxorubicinGoldOral contraceptives SilverTetracycline TraumaBurnsIatrogenic Chemical peels Cryotherapy Dermabrasion Laser therapyMechanical injury MiscellaneousAcnePityriasis albaSeborrheic dermatitis Pathophysiology [dermatologyadvisor.com]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

More recent studies have confirmed that oxidative stress is involved in the pathophysiology of vitiligo. 153. and 154. [plasticsurgerykey.com]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

[…] fungus and therefore predilection for people with increased sebaceous activity) during the summer months when unaffected skin tans normally, but the lesions remain relatively hypopigmented because the organism produces an inhibitor of tyrosinase, which prevents [lucianoschiazza.it]

The goal of treatment is to prevent secondary infection and to allow the lesions to heal on their own. [bobbybukamd.com]

Filtration surgery success rate ranges from 66% to 100%. [3] Prophylactic goniotomy is quite effective in the prevention of glaucoma in patients with early signs of angles changes. Success rates ranges from 89% to 100%. [eyewiki.aao.org]

Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 2003; 26 : 259–265. 64. Salo AM, Cox H, Farndon P, et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. [nature.com]