ORPHA:178307
Reticulate acropigmentation of Kitamura
Also known as: RAK
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
116
55th percentile
Trials
0
Interventional, condition-specific
Researchers
484
Distinct authors in sample
Gene link
ADAM10
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014234
- OMIM:615537
- UMLS:C0406811
Additional Mondo synonyms (1)
reticulate acropigmentation of Kitamura
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — ADAM10
- LiteraturePresent
116 matched papers (55 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ADAM10).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
116
116 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
116 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
55 in the last 10 years · medium confidence · 55th percentile (publications denominator)
Phrase hits: 116 · MeSH hits: 0
Who's working on it?
484
Distinct author names in 116 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Akiyama M4 papers · 2019
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Papers in Europe PMC - 02Betz RC4 papers · 2017
Institute of Human Genetics, University of Bonn, D-53111 Bonn, Germany. regina.betz@uni-bonn.de
Papers in Europe PMC - 03Kono M4 papers · 2019
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Papers in Europe PMC - 04Lestringant GG4 papers · 2017
Department of Dermatology, Tawam Hospital, Al Ain, United Arab Emirates. gglest@emirates.net.ae
Papers in Europe PMC - 05Suzuki T4 papers · 2026
Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, 990-9585, Japan.
Papers in Europe PMC - 06Adya KA3 papers · 2020
Department of Dermatology, Venereology and Leprosy, SBMP Medical College, Hospital and Research Center, BLDE University, Bijapur, Karnataka, India.
Papers in Europe PMC - 07Al Hawsawi K3 papers · 2023
Department of Medicine, King Faisal Hospital, Taif, Saudi Arabia. khawsawi2002@yahoo.com
Papers in Europe PMC - 08Altmüller J3 papers · 2017
Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany.
Papers in Europe PMC - 09
- 10Fritz G3 papers · 2017
Department of Neuropathology, Neurozentrum, University of Freiburg, D-79106 Freiburg, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Reticulate acropigmentation of Kitamura" OR "Reticulate acropigmentation of the Kitamura"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Reticulate acropigmentation of Kitamura" OR "Reticulate acropigmentation of the Kitamura" OR "ADAM10" OR "reticulate pigment disorder"
Recall-expansion terms: ADAM10, reticulate pigment disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: RAK
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:47:07.393Z