2026 ICD-10-CM Diagnosis Code Q82.8Other specified congenital malformations of skin

AHRQ’s CCSR groups this code into broader clinical categories.

• Alveolar Bone Loss

  resorption or wasting of the tooth-supporting bone (alveolar process) in the maxilla or mandible.

• Angiomatosis

  a condition with multiple tumor-like lesions caused either by congenital or developmental malformations of blood vessels, or reactive vascular proliferations, such as in bacillary angiomatosis. angiomatosis is considered non-neoplastic.

• Angiomatosis, Bacillary

  a reactive vascular proliferation that is characterized by the multiple tumor-like lesions in skin, bone, brain, and other organs. bacillary angiomatosis is caused by infection with gram-negative bartonella bacilli (such as bartonella henselae), and is often seen in aids patients and other immunocompromised hosts.

• Sturge-Weber Syndrome

  a non-inherited congenital condition with vascular and neurological abnormalities. it is characterized by facial vascular nevi (port-wine stain), and capillary angiomatosis of intracranial membranes (meninges; choroid). neurological features include epilepsy; cognitive deficits; glaucoma; and visual defects.

• von Hippel-Lindau Disease

  an autosomal dominant disorder caused by mutations in a tumor suppressor gene. this syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. they include hemangioblastoma in the retina; cerebellum; and spinal cord; pheochromocytoma; pancreatic tumors; and renal cell carcinoma (see carcinoma, renal cell). common clinical signs include hypertension and neurological dysfunctions.

• Focal Dermal Hypoplasia

  a genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. it is found exclusively in females and transmitted as an x-linked dominant trait.

• Livedo Reticularis

  a condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. this red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. the condition is intensified by cold exposure and relieved by rewarming.

• Livedoid Vasculopathy

  a rare cutaneous thrombotic disease due to occlusion of dermal vessels. it is characterized by purpuric maculae and ulcerations especially during summer which form scars called atrophie blanche. it is more associated with other syndromes (e.g., protein c deficiency; hyperhomocysteinemia). livedo reticularis with systemic involvement and stroke is sneddon syndrome.

• Sneddon Syndrome

  a systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic cerebral infarction; coronary disease, and hypertension. elevation of antiphospholipid antibody titers (see also antiphospholipid syndrome), cardiac valvulopathy, ischemic attack, transient; seizures; dementia; and chronic ischemia of the extremities may also occur. pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media (from jablonski, dictionary of syndromes & eponymic diseases, 2d ed; adams et al., principles of neurology, 6th ed, p861; arch neurol 1997 jan;54(1):53-60). mutations in the cecr1 gene (ada2 protein, human) are associated with sneddon syndrome.

• Anetoderma

  benign dermatosis caused by a loss of dermal elastic tissue resulting in localized sac-like areas of flaccid skin. it can be either primary (idiopathic) or secondary to other skin conditions, penicillamine use, or premature birth.

• Pseudoxanthoma Elasticum

  an inherited disorder of connective tissue with extensive degeneration and calcification of elastic tissue primarily in the skin, eye, and vasculature. at least two forms exist, autosomal recessive and autosomal dominant. this disorder is caused by mutations of one of the atp-binding cassette transporters. patients are predisposed to myocardial infarction and gastrointestinal hemorrhage.

• Arrhythmogenic Right Ventricular Dysplasia

  a congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the right ventricle wall and loss of myocardial cells. primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.

• Talipes Cavus

  a foot deformity in which the arch of the foot is high and often the heel adducted.

• Porokeratosis

  a heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of keratinocytes and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. these keratotic lesions can progress to overt cutaneous neoplasm. several clinical variants are recognized, including porokeratosis of mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.

• Acanthosis Nigricans

  a circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. it occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder.

• Mongolian Spot

  a bluish-gray to gray-brown benign, melanocytic nevus found usually in the lumbosacral region of dark-skinned people, especially those of east asian ancestry. it is usually congenital or appears shortly after birth, and disappears in childhood.

• Bloom Syndrome

  an autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism and other abnormalities, and a predisposition toward developing cancer. the bloom syndrome gene (blm) encodes a recq-like dna helicase.

• Hypohidrosis

  abnormally diminished or absent perspiration. both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.

• Darier Disease

  an autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. it is caused by mutations in the atp2a2 gene encoding serca2 protein, one of the sarcoplasmic reticulum calcium-transporting atpases. the condition is similar, clinically and histologically, to benign familial pemphigus, another autosomal dominant skin disorder. both diseases have defective calcium pumps (calcium-transporting atpases) and unstable desmosomal adhesion junctions (desmosomes) between keratinocytes.

• Cutis Laxa

  a group of connective tissue diseases in which skin hangs in loose pendulous folds. it is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. cutis laxa is usually a genetic disease, but acquired cases have been reported. (from dorland, 27th ed)

• Erythrokeratodermia Variabilis

  an autosomal dominant skin disease characterized by transient and variable noninflammatory erythema and hyperkeratosis. it has been associated with mutations in the genes that code for connexins. erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. affected individuals often develop palmoplantar keratoderma.

• Dyskeratosis Congenita

  a predominantly x-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. oral and dental abnormalities may also be present. complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from int j paediatr dent 2000 dec;10(4):328-34) the x-linked form is also known as zinsser-cole-engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

• Achondroplasia

  an autosomal dominant disorder that is the most frequent form of short-limb dwarfism. affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (online mendelian inheritance in man, http://www.ncbi.nlm.nih.gov/omim, mim#100800, april 20, 2001)

• Blood Vessels

  any of the tubular vessels conveying the blood (arteries, arterioles, capillaries, venules, and veins).

• Keratinocytes

  epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.

• Lumbosacral Region

  region of the back including the lumbar vertebrae, sacrum, and nearby structures.

• Keratosis Lichenoides Chronica|Keratose Lichenoide Striae|Lichen Ruber Moniliformis|Lichen Verrucosus Et Reticularis|Lichen ruber moniliformis|Lichenoid Trikeratosis|Nekam Disease|Porokeratosis Striata Lichenoides

  a rare skin disorder with brownish-purple, thick scaly papules or small nodules arranged in a linear or reticulate pattern on the trunk and limbs. many cases are associated with seborrhoeic dermatitis- or rosacea-like lesions on the face. it is distinguished from lichen planus by the absence of pruritus, a lack of response to a topical or systemic corticosteroid and the presence of focal parakeratosis in histological samples.

• Grade 2 Hypohidrosis, CTCAE|Grade 2 Hypohidrosis

  symptomatic; limiting instrumental adl or mild/moderate impact on age-appropriate normal daily activity (pediatric)

• Grade 3 Hypohidrosis, CTCAE|Grade 3 Hypohidrosis

  increase in body temperature; limiting self-care adl or severe impact on age-appropriate normal daily activity (pediatric)

• Grade 4 Hypohidrosis, CTCAE|Grade 4 Hypohidrosis

  life-threatening consequences; urgent intervention indicated

• Focal Dermal Hypoplasia

  a genetic multisystem disorder caused by mutations in the porcn gene. it is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.

• Livedo Reticularis

  a recurrent purple discoloration of the skin that does not blanche and is found in a lacy, network pattern, most often in the lower extremities. it may be aggravated by exposure to cold and is classified as idiopathic or secondary. secondary livedo reticularis may be a cutaneous manifestation of immune system disorders (e.g., lupus erythematosus, rheumatoid arthritis, cryoglobulinemia, lymphoma, etc), and hematologic disorders (polycythemia vera).

• Genodermatosis

  a group of inherited skin disorders that present with multisystem involvement. it includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, rothmund thomson syndrome, and dyskeratosis congenita.

• Achondrogenesis

  a rare group of disorders characterized by defective development of bones and cartilage.

• Type II Achondrogenesis|Achondrogenesis, Type II|Hypochondrogenesis|Langer-Saldino Achondrogenesis

  an autosomal dominant condition caused by mutation(s) in the col2a1 gene, encoding collagen alpha-1(ii) chain. it is the most severe of a spectrum of disorders caused by mutations in the col2a1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. often, infants die at birth or shortly thereafter.

• Acrocyanosis

  persistent, symmetric, and painless blue discoloration of the extremities. it is the result of vasospasm in response to cold. the affected areas are cold and sweaty.

• Neonatal Acrocyanosis

  transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.

• ABCC6 wt Allele|ABC34|ARA|ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 wt Allele|ATP-Binding Cassette, Subfamily C, Member 6 Gene|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|Pseudoxanthoma Elasticum Gene|URG7

  human abcc6 wild-type allele is located in the vicinity of 16p13.1 and is approximately 75 kb in length. this allele, which encodes multidrug resistance-associated protein 6, plays a role in the active transport of drugs across the plasma membrane. mutation of the gene is associated with pseudoxanthoma elasticum and generalized arterial calcification of infancy type 2.

• Pseudoxanthoma Elasticum

  a rare, progressive, autosomal recessive inherited disorder caused by mutations in the abcc6 gene. it is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.

• Spastic Paraplegia 56|Autosomal Recessive Spastic Paraplegia-56 with or without Pseudoxanthoma Elasticum|SPG56

  an autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the cyp2u1 gene, encoding cytochrome p450 2u1.

• Acroosteolysis

  a condition that is characterized by degeneration of the distal phalanges.

• Dysplasia of Larynx

  mild, moderate, or severe dysplasia of the squamous epithelium of the laryngeal mucosa.

• Porokeratosis

  a clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.

• Acanthosis Nigricans

  a melanotic cutaneous lesion that develops in the axilla and other body folds. it may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.

• Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome|HAIR-AN Syndrome

  a condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. it is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor.

• Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism|Type A Insulin Resistance Syndrome

  a syndrome of insulin resistance caused by mutation(s) in the insr gene, encoding the insulin receptor. this condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. this is the least severe of a spectrum of disorders; the other two conditions are rabson-mendenhall syndrome and donohoe syndrome.

• Grade 2 Hypohidrosis, CTCAE|Grade 2 Hypohidrosis

  symptomatic; limiting instrumental adl

• Grade 3 Hypohidrosis, CTCAE|Grade 3 Hypohidrosis

  increase in body temperature; limiting self care adl

• Grade 4 Hypohidrosis, CTCAE|Grade 4 Hypohidrosis

  heat stroke

• Grade 5 Hypohidrosis, CTCAE|Grade 5 Hypohidrosis

  death

• Hypohidrosis

  reduced sweating. causes include burns, dehydration, radiation, and leprosy.

• Hypohidrosis, CTCAE|Hypohidrosis|Hypohidrosis

  a disorder characterized by reduced sweating.

• Rothmund Thomson Syndrome

  a rare autosomal recessive genetic disorder that mainly affects the skin. subjects present with a rash and prominent poikiloderma, juvenile cataracts, saddle shaped nose, skeletal dysplasia and a predisposition to osteosarcoma and skin cancers. the disorder is attributed to mutations of the recql4 helicase gene on 8q24.

• Rothmund-Thomson Syndrome|RTS|RTS|Rothmund Thomson Syndrome|Rothmund-Thompson Syndrome|Rothmund-Thomson syndrome

  an autosomal recessive inherited syndrome usually caused by mutations in the recql4 gene. it is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.

• Epidermolytic Palmoplantar Keratoderma

  a genetic skin disorder caused by mutations in the krt9 gene. it is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.

• KRT16 wt Allele|CK16|FNEPPK|Focal Non-Epidermolytic Palmoplantar Keratoderma Gene|K16|K1CP|KRT16A|Keratin 16 wt Allele|NEPPK|PC1

  human krt16 wild-type allele is located in the vicinity of 17q21.2 and is approximately 6 kb in length. this allele, which encodes keratin, type i cytoskeletal 16 protein, is involved in epidermal and hair follicle maturation. mutation of the gene is associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.

• KRT9 wt Allele|CK-9|Cytokeratin 9 Gene|EPPK|Epidermolytic Palmoplantar Keratoderma Gene|K9|KA9|Keratin 9 wt Allele|Keratin 9, Type I Gene|Keratin, Type I Cytoskeletal 9 Gene|Type I Cytoskeletal 9 Gene

  human krt9 wild-type allele is located in the vicinity of 17q21.2 and is approximately 6 kb in length. this allele, which encodes keratin, type i cytoskeletal 9 protein, plays a role in intermediate filament functions in the epidermis of the palms and soles. mutations in the gene are associated with epidermolytic palmoplantar keratoderma.

• Palmoplantar Keratoderma

  a group of autosomal dominant, autosomal recessive, x-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.

• Palmoplantar Keratoderma with Leukoplakia

  a hereditary syndrome this is characterized by palmoplantar keratoderma accompanied by leukoplakia and may be associated with a high lifetime risk of esophageal cancer, as seen in howel-evans syndrome.

• Acquired Keratoderma

  focal or diffuse thickening of the skin not inherited as a primary genetic disorder. causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.

• Keratoderma

  a skin disorder consisting of hypertrophy of the stratum corneum of the skin.

• Achondroplasia

  an autosomal dominant disorder caused by mutation(s) in the fgfr3 gene, encoding fibroblast growth factor receptor 3. the condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.

• COMP wt Allele|Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene|Cartilage Oligomeric Matrix Protein wt Allele|Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene|EDM1|EPD1|MED|PSACH|Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple) Gene|THBS5

  human comp wild-type allele is located in the vicinity of 19p13.1 and is approximately 9 kb in length. this allele, which encodes cartilage oligomeric matrix protein, is involved in cartilage structural integrity. mutation of the gene is associated with pseudoachondroplasia and multiple epiphyseal dysplasia 1.

• FGFR3 wt Allele|ACH|Achondroplasia, Thanatophoric Dwarfism Gene|CD333|CEK2|FGFR3|Fibroblast Growth Factor Receptor 3 (Achondroplasia, Thanatophoric Dwarfism) Gene|Fibroblast Growth Factor Receptor 3 wt Allele|HSFGFR3EX|JTK4

  human fgfr3 wild-type allele is located in the vicinity of 4p16.3 and is approximately 15 kb in length. this allele, which encodes fibroblast growth factor receptor 3 protein, is involved in mitogenesis, differentiation, and bone development and maintenance. alterations in the gene resulting in defects cause, achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers.

• Pseudoachondroplasia

  a rare, autosomal dominant inherited disorder caused by mutations in the comp gene. it is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips.

• Anetoderma

  a dermatologic condition characterized by focal loss of elastic tissue. clinically it presents with atrophic depressions or saccular outpouchings of the skin.

• Naxos Disease|KWWH Type I|Keratoderma with Woolly Hair Type I|NXD

  an autosomal recessive condition caused by mutation(s) in the jup gene, encoding junction plakoglobin. it is characterized by ectodermal abnormalities and right ventricular arrhythmogenic cardiomyopathy.

Skin Conditions

Your skin is your body's largest organ. It covers the entire outside of your body. There are many ways that your skin protects your body and helps keep you healthy. For example, it:

The full article covers:

• What does your skin do?
• What problems and conditions can affect your skin?
• How can I keep my skin healthy?

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