Eosinophilic pustular folliculitis (EPF) affects the skin causing itchy, red or skin-colored bumps and pustules (bumps containing pus). The papules mostly appear on the face, scalp, neck and trunk and may last for weeks or months. EPF affects males more than females. There are several forms of EPF. Classic eosinophilic pustular folliculitis mainly occurs in Japan. Immunosuppression-associated EPF is mainly associated with HIV infection, but has also been associated with certain cancers and medications.[16046] The infantile form of EPF is seen in infants from birth or within the first year of life. The underlying cause of EFP is unknown. All of these forms have similar skin findings.

A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.

Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.

For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close

A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.

A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.

A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.

Garrod's pads (also known as violinist's pads [1] ) are a cutaneous condition characterized by calluses on the dorsal aspect of the interphalangeal joints , [2] i.e. the back side of the finger joints. They are often seen in violin , viola , and cello players, along with fiddler's neck and other dermatologic conditions peculiar to string musicians. [2] Although Garrod's pads are conventionally described as appearing on the proximal interphalangeal joint, distal interphalangeal joint involvement has also been described. [2] Garrod's pads are named after Archibald Garrod who first documented them in 1904 in association with Dupuytren's contracture . [3] H.A. Bird described them as an incidental finding in a professional violinist and proposed that they arise in such cases due to repeated extreme tension of the extensor tendons over the interphalangeal joints. [4] Bird noted that violin players use the left hand for a markedly different task than the right hand, with the extensor tendons in the left hand subjected to considerable tension, and that Garrod's pads only arise on the left hand in such cases. This unilateral finding differentiates the occupational hazard of Garrod's pads from more significant disorders. Among violinists and violists, Garrod's pads apparently arise as a protective mechanism for the skin and subcutaneous tissues above the tendons; Bird notes that they do not protect against external trauma unlike most calluses. [4] Patients with Dupuytren's contracture are four times more likely to have coexisting Garrod's pads. [5] [6] See also [ edit ] Knuckle pads Harpist's finger Fiddler's neck Cellist's chest Cello scrotum Paget-Schroetter syndrome List of cutaneous conditions List of eponymously named medical signs References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).

A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytis palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant. Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship. Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.' Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family and identified a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.

Lentiginosis Specialty Dermatology Lentiginosis refers to the presence of lentigines in large numbers or in a distinctive configuration. [1] These are spotted areas created by accumulation on the skin due to sun exposure. Due to a high irregularity any distinction from randomness defines lentiginosis. Although lentigines are benign, they be the signal of an underlying problem such as progressive cardiomyopathic lentiginosis which can cause retardation in children. [2] See also [ edit ] Lentigines Skin cancer List of cutaneous conditions References [ edit ] ^ http://cancerweb.ncl.ac.uk/cgi-bin/omd?lentiginosis ^ "Lentigines - American Osteopathic College of Dermatology (AOCD)" . www.aocd.org . External links [ edit ] Classification D ICD - 10 : L81.4 ( ILDS L81.402, L81.404, L81.406) MeSH : D007911 DiseasesDB : 34325 SNOMED CT : 402624000 v t e Skin cancer of nevi and melanomas Melanoma Mucosal melanoma Superficial spreading melanoma Nodular melanoma lentigo Lentigo maligna / Lentigo maligna melanoma Acral lentiginous melanoma Amelanotic melanoma Desmoplastic melanoma Melanoma with features of a Spitz nevus Melanoma with small nevus-like cells Polypoid melanoma Nevoid melanoma Melanocytic tumors of uncertain malignant potential Nevus / melanocytic nevus Nevus of Ito / Nevus of Ota Spitz nevus Pigmented spindle cell nevus Halo nevus Pseudomelanoma Blue nevus of Jadassohn–Tièche Cellular Epithelioid Deep penetrating Amelanotic Malignant Congenital melanocytic nevus ( Giant Medium-sized Small-sized ) Balloon cell nevus Dysplastic nevus / Dysplastic nevus syndrome Acral nevus Becker's nevus Benign melanocytic nevus Nevus spilus v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This Genodermatoses article is a stub .

Pipkin and Pipkin (1950) observed 8 cases in 3 generations of a Maltese-Lebanese family. Six of the affected had nystagmus. Eyes - Nystagmus Inheritance - Autosomal dominant Skin - Lentigines ▲ Close

A number sign (#) is used with this entry because of evidence that transaldolase deficiency is caused by homozygous or compound heterozygous mutation in the TALDO1 gene (602063) on chromosome 11p15. Description Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019). Clinical Features Verhoeven et al. (2001) described deficiency of transaldolase in the first child of healthy, consanguineous Turkish parents. Soon after birth, the patient had undergone surgical correction of aortic coarctation.

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin. Clinical description Dysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely. Etiology The disorder is caused by mutations in the transaldolase gene ( TALDO1 , 11p15.5-p15.4).

A number sign (#) is used with this entry because acute intermittent porphyria (AIP) is caused by heterozygous mutation in the gene encoding hydroxymethylbilane synthase (HMBS; 609806), also referred to as porphobilinogen deaminase (PBGD), on chromosome 11q23. Description Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform.

The proportion of patients with latent AHP varied between 0 and 43%. Agents/Circumstances to Avoid for All Individuals with AIP Excessive alcohol consumption and smoking should be avoided.

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias . AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.

A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. Clinical description Patients suffer intermittent neuro-visceral attacks that can persist for several days and that repeat over several weeks. These attacks manifest as intense abdominal pain (>95% of cases) and neurological and/or psychological symptoms. The abdominal pain is often associated with lumbago irradiating to the thighs, and with nausea, vomiting and relentless constipation. Psychological symptoms are variable: irritability, emotionality, depression, considerable anxiety and, more rarely, auditory and visual hallucinations, disorientation, mental confusion.

Heat cramps , a type of heat illness , are muscle spasms that result from loss of large amount of salt and water through exercise. Heat cramps are associated with cramping in the abdomen , arms and calves . This can be caused by inadequate consumption of fluids or electrolytes . [1] Heavy sweating causes heat cramps, especially when the water is replaced without also replacing salt or potassium . [2] Although heat cramps can be quite painful, they usually don't result in permanent damage, though they can be a symptom of heat stroke or heat exhaustion . Heat cramps can indicate a more severe problem in someone with heart disease or if they last for longer than an hour. [2] In order to prevent them, one may drink electrolyte solutions such as sports drinks during exercise or strenuous work or eat potassium-rich foods like bananas and apples . When heat cramps occur, the affected person should avoid strenuous work and exercise for several hours to allow for recovery. [2] See also [ edit ] Dehydration References [ edit ] ^ Auerbach Paul S Wilderness Medicine. 4th ed.

Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina ), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.