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Papule

MedGen UID:
507324
Concept ID:
C0332563
Finding
Synonym: Papules
SNOMED CT: Papule (25694009); Papula (25694009); Papulae (25694009)
 
HPO: HP:0200034

Definition

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. [from HPO]

Conditions with this feature

Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.
Malignant atrophic papulosis
MedGen UID:
113138
Concept ID:
C0221011
Disease or Syndrome
Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.
Keratosis pilaris atrophicans
MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).
Xeroderma pigmentosum, group F
MedGen UID:
120612
Concept ID:
C0268140
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Generalized basaloid follicular hamartoma syndrome
MedGen UID:
343009
Concept ID:
C1853919
Disease or Syndrome
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
MedGen UID:
344543
Concept ID:
C1855644
Disease or Syndrome
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.
Hereditary papulotranslucent acrokeratoderma
MedGen UID:
350144
Concept ID:
C1863343
Disease or Syndrome
A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Dowling-Degos disease 4
MedGen UID:
816643
Concept ID:
C3810313
Disease or Syndrome
Dowling-Degos disease-4 (DDD4) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. Age of onset varies between the second and sixth decade of life (summary by Basmanav et al., 2014). For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.
Porokeratosis 8, disseminated superficial actinic type
MedGen UID:
863565
Concept ID:
C4015128
Disease or Syndrome
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion of genetic heterogeneity of porokeratosis, see 175800.
Inflammatory skin and bowel disease, neonatal, 2
MedGen UID:
863567
Concept ID:
C4015130
Disease or Syndrome
Neonatal nephrocutaneous inflammatory syndrome (NNCIS) is an autosomal recessive disorder characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction. Some patients have chronic diarrhea, and necrotizing enterocolitis with intestinal perforation has been observed. Other features include facial dysmorphisms and cardiac anomalies. Most patients require ventilatory and circulatory support at birth, exhibit failure to thrive, experience recurrent infections with sepsis as a common complication, and die within 6 months (Mazurova et al., 2020; Labbouz et al., 2023). Reviews Takeichi and Akiyama (2021) reviewed published reports of patients with mutation in the EGFR gene, whose features included intrauterine growth restriction; thin, translucent, and fragile skin (14 of 15 cases); skin desquamation (10 of 17 cases); ichthyosis (9 of 17 cases); recurrent skin infections and sepsis (9 of 12 cases); nephromegaly (10 of 16 cases); and congenital heart defects (7 of 17 cases). Other observed features included erythroderma, tubulopathy, necrotizing enterocolitis/intestinal perforation, cryptorchidism, hyperimmunoglobulin E, and dentinogenesis imperfecta. Almost all children died within 2.5 years after birth. The authors suggested that EGFR-associated systemic inflammatory diseases should be considered a part of the clinical spectrum of 'autoinflammatory keratinization diseases' (AiKDs).
Basal cell nevus syndrome 2
MedGen UID:
1841087
Concept ID:
C5830451
Neoplastic Process
The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).

Professional guidelines

PubMed

Firnhaber JM
Am Fam Physician 2020 Sep 15;102(6):339-346. PMID: 32931212
Yee BE, Richards P, Sui JY, Marsch AF
Dermatol Ther 2020 Nov;33(6):e14252. Epub 2020 Sep 15 doi: 10.1111/dth.14252. PMID: 32860489
Maverakis E, Ma C, Shinkai K, Fiorentino D, Callen JP, Wollina U, Marzano AV, Wallach D, Kim K, Schadt C, Ormerod A, Fung MA, Steel A, Patel F, Qin R, Craig F, Williams HC, Powell F, Merleev A, Cheng MY
JAMA Dermatol 2018 Apr 1;154(4):461-466. doi: 10.1001/jamadermatol.2017.5980. PMID: 29450466

Recent clinical studies

Etiology

Joshy J, Mistry K, Levell NJ, van Bodegraven B, Vernon S, Rajan N, Craig P, Venables ZC
Clin Exp Dermatol 2022 Jun;47(6):1030-1035. Epub 2022 Mar 20 doi: 10.1111/ced.15126. PMID: 35149987
Firnhaber JM
Am Fam Physician 2020 Sep 15;102(6):339-346. PMID: 32931212
Kurtzman DJB, Vleugels RA
J Am Acad Dermatol 2018 Apr;78(4):776-785. Epub 2017 Dec 9 doi: 10.1016/j.jaad.2017.12.010. PMID: 29229575
Yotsu RR, Murase C, Sugawara M, Suzuki K, Nakanaga K, Ishii N, Asiedu K
J Dermatol 2015 Nov;42(11):1033-41. Epub 2015 Sep 1 doi: 10.1111/1346-8138.13049. PMID: 26332541
Hassikou H, Tabache F, Safi S, Baaj M, Hadri L
Joint Bone Spine 2008 Mar;75(2):212-4. Epub 2008 Mar 3 doi: 10.1016/j.jbspin.2007.04.027. PMID: 18313966

Diagnosis

Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
Iranmanesh B, Khalili M, Amiri R, Zartab H, Aflatoonian M
Dermatol Ther 2021 Jan;34(1):e14578. Epub 2020 Dec 13 doi: 10.1111/dth.14578. PMID: 33236823Free PMC Article
Firnhaber JM
Am Fam Physician 2020 Sep 15;102(6):339-346. PMID: 32931212
Yee BE, Richards P, Sui JY, Marsch AF
Dermatol Ther 2020 Nov;33(6):e14252. Epub 2020 Sep 15 doi: 10.1111/dth.14252. PMID: 32860489
Chapman LW, Yu SS, Arron ST
Semin Cutan Med Surg 2019 Mar 1;38(1):E65-E66. doi: 10.12788/j.sder.2019.008. PMID: 31051027

Therapy

Kasitinon SY, Vandergriff T
J Cutan Pathol 2020 Nov;47(11):1046-1049. Epub 2020 Sep 13 doi: 10.1111/cup.13786. PMID: 32578245
Garg T, Ramchander, Shrihar R, Gupta TP, Aggarwal S
Skinmed 2011 Mar-Apr;9(2):125-6. PMID: 21548522
Kuykendall-Ivy T, Collier SL, Johnson SM
Cutis 2004 Apr;73(4):239-40. PMID: 15134323
Plewig G, Jansen T
Dermatology 1998;196(1):102-7. doi: 10.1159/000017841. PMID: 9557242
Dabski C
Am Fam Physician 1989 Apr;39(4):120-6. PMID: 2650497

Prognosis

Joshy J, Mistry K, Levell NJ, van Bodegraven B, Vernon S, Rajan N, Craig P, Venables ZC
Clin Exp Dermatol 2022 Jun;47(6):1030-1035. Epub 2022 Mar 20 doi: 10.1111/ced.15126. PMID: 35149987
Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
Choate EA, Nobori A, Worswick S
Dermatol Clin 2019 Oct;37(4):545-554. Epub 2019 Jul 10 doi: 10.1016/j.det.2019.05.012. PMID: 31466594
Kurtzman DJB, Vleugels RA
J Am Acad Dermatol 2018 Apr;78(4):776-785. Epub 2017 Dec 9 doi: 10.1016/j.jaad.2017.12.010. PMID: 29229575
Takada S, Shimizu T, Hadano Y, Matsumoto K, Kataoka Y, Arima Y, Inoue T, Sorano S
Mol Med Rep 2012 Jul;6(1):3-8. Epub 2012 Apr 6 doi: 10.3892/mmr.2012.861. PMID: 22484457

Clinical prediction guides

Manwatkar A, Padiyar S, Nair A, Jha A, Kumar S, Yadav B, Prakash JAJ, Das JK, Mathew J
Clin Rheumatol 2023 Dec;42(12):3289-3297. Epub 2023 Oct 6 doi: 10.1007/s10067-023-06751-0. PMID: 37801141
Brown A, Sawyer JD, Neumeister MW
Clin Plast Surg 2021 Oct;48(4):677-686. Epub 2021 Aug 18 doi: 10.1016/j.cps.2021.06.002. PMID: 34503728
See SHC, Tan TL, Kurtzer TA, Gerami P, Guitart J, Yazdan P
Am J Dermatopathol 2021 Jun 1;43(6):418-422. doi: 10.1097/DAD.0000000000001862. PMID: 33298708
Kurtzman DJB, Vleugels RA
J Am Acad Dermatol 2018 Apr;78(4):776-785. Epub 2017 Dec 9 doi: 10.1016/j.jaad.2017.12.010. PMID: 29229575
Yokogawa M, Kamakura T, Ishiguro H, Ikeda M, Kodama H
J Dermatol 2005 Jan;32(1):30-3. doi: 10.1111/j.1346-8138.2005.tb00710.x. PMID: 15841658

Recent systematic reviews

Zucchi A, Scroppo FI, Capogrosso P, Salonia A, Duante J, Bini V, Liguori G, Bartoletti R
Andrology 2022 Jan;10(1):42-50. Epub 2021 Aug 2 doi: 10.1111/andr.13083. PMID: 34297894Free PMC Article
Yee BE, Richards P, Sui JY, Marsch AF
Dermatol Ther 2020 Nov;33(6):e14252. Epub 2020 Sep 15 doi: 10.1111/dth.14252. PMID: 32860489
Saric S, Clark AK, Sivamani RK, Lio PA, Lev-Tov HA
J Altern Complement Med 2017 Dec;23(12):920-929. Epub 2017 Jun 26 doi: 10.1089/acm.2016.0398. PMID: 28650692
Arowojolu AO, Gallo MF, Lopez LM, Grimes DA
Cochrane Database Syst Rev 2012 Jul 11;2012(7):CD004425. doi: 10.1002/14651858.CD004425.pub6. PMID: 22786490Free PMC Article
Arowojolu AO, Gallo MF, Lopez LM, Grimes DA
Cochrane Database Syst Rev 2012 Jun 13;(6):CD004425. doi: 10.1002/14651858.CD004425.pub5. PMID: 22696343

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